NOS3 (nitric oxide synthase 3) - Rat Genome Database

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Gene: NOS3 (nitric oxide synthase 3) Homo sapiens
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Symbol: NOS3
Name: nitric oxide synthase 3
RGD ID: 735618
HGNC Page HGNC:7876
Description: Enables several functions, including actin monomer binding activity; arginine binding activity; and calmodulin binding activity. Involved in several processes, including nitric oxide biosynthetic process; positive regulation of blood vessel endothelial cell migration; and removal of superoxide radicals. Located in Golgi apparatus and caveola. Implicated in several diseases, including artery disease (multiple); eye disease (multiple); leukemia (multiple); reproductive organ cancer (multiple); and vasculitis (multiple). Biomarker of several diseases, including central sleep apnea; endometrial carcinoma; lymphangioleiomyomatosis; obstructive sleep apnea; and pulmonary hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cNOS; constitutive NOS; EC-NOS; ECNOS; endothelial NOS; eNOS; nitric oxide synthase 3 (endothelial cell); nitric oxide synthase 3 [endothelial cell]; nitric oxide synthase 3 transcript variant eNOS-delta20; nitric oxide synthase 3 transcript variant eNOS-delta20-21; nitric oxide synthase 3 transcript variant eNOS-delta21; nitric oxide synthase 3, endothelial cell; nitric oxide synthase, endothelial; NOS type III; NOSIII
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: BW383_H BW384_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387150,991,017 - 151,014,588 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7150,991,017 - 151,015,653 (+)Ensemblhg38GRCh38
GRCh377150,688,105 - 150,711,676 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367150,319,080 - 150,342,609 (+)NCBIBuild 36Build 36hg18NCBI36
Build 347150,125,794 - 150,149,323NCBI
Celera7145,245,139 - 145,269,020 (+)NCBICelera
Cytogenetic Map7q36.1NCBI
HuRef7144,500,690 - 144,524,025 (+)NCBIHuRef
CHM1_17150,696,541 - 150,720,093 (+)NCBICHM1_1
T2T-CHM13v2.07152,163,824 - 152,187,711 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27150,017,398 - 150,041,276 (+)NCBI
JBrowse:




Disease Annotations     Click to see Annotation Detail View
acute chest syndrome  (IAGP)
acute kidney failure  (EXP,ISO)
Acute Liver Failure  (ISO)
acute lymphoblastic leukemia  (IAGP)
acute myeloid leukemia  (IAGP)
adenocarcinoma  (EXP)
Alzheimer's disease  (EXP,IAGP,IEP,IMP)
Alzheimer's disease 1  (IAGP)
angle-closure glaucoma  (IAGP)
anterior ischemic optic neuropathy  (IAGP)
aortic valve disease  (ISS)
arteriosclerosis  (EXP)
Arteriovenous Fistula  (ISO)
asthma  (IAGP)
atherosclerosis  (EXP,IAGP,ISO)
atrial fibrillation  (EXP)
autism spectrum disorder  (EXP)
Behcet's disease  (IAGP)
bladder neck obstruction  (ISO)
Brain Hypoxia  (ISO)
brain ischemia  (ISO)
breast cancer  (IAGP)
Breast Cancer, Familial  (IAGP)
Breast Neoplasms  (EXP)
Bronchial Hyperreactivity  (ISO)
bronchiolitis obliterans  (ISO)
Cardiomegaly  (EXP,ISO)
cardiomyopathy  (IAGP,ISO)
Cardiotoxicity  (IAGP)
cardiovascular system disease  (EXP)
Carotid Artery Injuries  (ISO)
central sleep apnea  (IEP)
cerebral infarction  (IAGP)
Child Behavior Disorders  (IAGP)
cholestasis  (ISO)
Chronic Cerebral Hypoperfusion  (ISO)
chronic kidney disease  (ISO)
chronic obstructive pulmonary disease  (EXP)
cleft lip  (EXP)
cleft palate  (EXP)
colitis  (ISO)
congenital diaphragmatic hernia  (ISO)
congestive heart failure  (EXP,ISO)
coronary artery disease  (EXP,IAGP)
coronary artery vasospasm  (EXP,IAGP)
cystic fibrosis  (IAGP)
diabetic angiopathy  (EXP,ISO)
Diabetic Cardiomyopathies  (ISO)
Diabetic Gastroparesis  (ISO)
Diabetic Nephropathies  (EXP,IAGP,ISO)
diabetic retinopathy  (IAGP,ISO)
Diaphragmatic Hernia  (EXP,ISO)
disease of cellular proliferation  (EXP)
Drug-Induced Enteropathy  (ISO)
end stage renal disease  (IAGP,ISO)
endometrial carcinoma  (IEP)
Endotoxemia  (ISO)
Esophageal Neoplasms  (EXP)
esophagus adenocarcinoma  (IAGP)
essential hypertension  (EXP,IAGP,ISS)
Experimental Arthritis  (ISO)
Experimental Diabetes Mellitus  (EXP,ISO)
Experimental Liver Cirrhosis  (EXP,ISO)
extrahepatic cholestasis  (EXP)
familial hyperlipidemia  (EXP,ISO)
Femur Head Necrosis  (IAGP)
Fetal Growth Retardation  (EXP,ISO)
gastric ulcer  (EXP,ISO)
Graft Occlusion, Vascular  (IAGP)
Hemorrhagic Shock  (ISO)
Hepatic Insufficiency  (EXP)
Hepatomegaly  (EXP)
hepatopulmonary syndrome  (ISO)
high grade glioma  (IEP)
Hyperemia  (IAGP)
hyperglycemia  (EXP)
hyperinsulinism  (EXP)
Hyperoxia  (ISO)
hypertension  (EXP,IAGP,ISO)
Hypertension Resistant to Conventional Therapy  (IAGP)
Hypertriglyceridemia  (ISO)
hypothyroidism  (ISO)
Hypoxia  (EXP)
ileus  (ISO)
impotence  (EXP,ISO)
Insulin Resistance  (EXP,ISO)
intestinal perforation  (EXP)
Intestinal Reperfusion Injury  (ISO)
Intimal Hyperplasia  (IDA)
intracranial aneurysm  (ISO)
Intracranial Hemorrhages  (ISO)
irritable bowel syndrome  (ISO)
ischemia  (EXP)
Kidney Reperfusion Injury  (ISO)
Kuhnt-Junius degeneration  (IAGP)
Left Ventricular Hypertrophy  (ISO)
leiomyoma  (IEP)
limb ischemia  (IMP,ISO)
liver cirrhosis  (ISO)
Liver Reperfusion Injury  (ISO)
lung disease  (ISO)
Lung Injury  (ISO)
Lung Reperfusion Injury  (ISO)
lymphangioleiomyomatosis  (IEP)
Lymphatic Metastasis  (IAGP)
macular retinal edema  (IAGP)
male infertility  (EXP)
Metabolic Syndrome  (EXP,IAGP,ISO)
migraine  (IAGP)
myocardial infarction  (EXP,IAGP,IMP,ISO)
Myocardial Ischemia  (EXP,IAGP)
Myocardial Reperfusion Injury  (EXP,ISO)
Nasal Polyps  (IEP)
Neoplasm Metastasis  (IAGP,IEP)
nephritis  (IAGP)
obesity  (ISO)
obstructive sleep apnea  (IAGP,IEP)
oligospermia  (EXP)
ovarian cancer  (IAGP)
overnutrition  (ISO)
Pain  (ISO)
Perennial Allergic Rhinitis  (IAGP)
perinatal necrotizing enterocolitis  (EXP)
persistent fetal circulation syndrome  (ISS)
Phyllodes Tumor  (IEP)
placental abruption  (EXP)
polycystic kidney disease  (ISO)
portal hypertension  (EXP,ISO)
pre-eclampsia  (EXP,ISO)
Preeclampsia/Eclampsia 1  (IAGP)
Pregnancy-Induced Hypertension  (EXP,IAGP)
Prenatal Exposure Delayed Effects  (ISO)
primary biliary cholangitis  (EXP,ISO)
primary open angle glaucoma  (IAGP)
primary ovarian insufficiency  (IAGP)
prostate cancer  (IAGP)
Prostatic Neoplasms  (EXP)
Pulmonary Arterial Hypertension  (ISO)
pulmonary edema  (EXP,ISO)
pulmonary embolism  (ISO)
pulmonary emphysema  (ISO)
pulmonary eosinophilia  (ISO)
pulmonary hypertension  (EXP,IAGP,IEP,ISO)
Pulmonary Hypertension, Hypoxia-Induced  (ISO)
Radiation Pneumonitis  (IAGP)
renal hypertension  (ISO)
renovascular hypertension  (EXP)
Reperfusion Injury  (EXP)
respiratory allergy  (IAGP)
Retina Reperfusion Injury  (ISO)
retinal degeneration  (ISO)
retinopathy of prematurity  (IAGP)
Right Ventricular Hypertrophy  (ISO)
Sepsis  (EXP,IEP)
sickle cell anemia  (IAGP)
Spinal Cord Compression  (ISO)
Spinal Cord Injuries  (ISO)
Stomach Neoplasms  (EXP)
Stroke  (IAGP,ISO)
Subarachnoid Hemorrhage  (ISO)
Sudden Hearing Loss  (IAGP)
telangiectasis  (IAGP)
Teratozoospermia  (EXP)
Testis Reperfusion Injury  (ISO)
Thromboembolism  (IAGP)
Thrombotic Microangiopathies  (ISO)
transient cerebral ischemia  (ISO)
Transplant Rejection  (ISO)
type 1 diabetes mellitus  (EXP)
type 2 diabetes mellitus  (EXP,ISO)
uremia  (EXP)
ureteral obstruction  (EXP)
urinary bladder cancer  (IEP)
Vascular Remodeling  (ISO)
vasculitis  (IAGP)
Vaso-occlusive Crisis  (IAGP)
Venous Thrombosis  (IAGP)
Ventricular Dysfunction, Right  (ISO)
Ventricular Premature Complexes  (EXP)
Ventricular Tachycardia  (EXP)
vestibular disease  (EXP)
vulva cancer  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(25R)-cholest-5-ene-3beta,26-diol  (ISO)
(R)-carnitine  (ISO)
(R)-lipoic acid  (ISO)
(R,R,R)-alpha-tocopherol  (EXP)
(S)-nicotine  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
11-deoxycorticosterone  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4,6-trinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-butoxyethanol  (ISO)
2-hydroxypropanoic acid  (EXP)
22-Hydroxycholesterol  (EXP)
25-hydroxycholesterol  (EXP)
26-hydroxycholesterol  (ISO)
3',5'-cyclic GMP  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,3-diphenyl-N-(1-phenylethyl)-1-propanamine  (ISO)
3-[3-(tert-butylsulfanyl)-1-(4-chlorobenzyl)-5-(propan-2-yl)-1H-indol-2-yl]-2,2-dimethylpropanoic acid  (EXP)
3-methyladenine  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxy-TEMPO  (EXP,ISO)
5,6,7,8-tetrahydrobiopterin  (EXP,ISO)
5-(dimethylamino)-N-(3,4-dimethyl-5-isoxazolyl)-1-naphthalenesulfonamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (ISO)
5-methoxypsoralen  (ISO)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (EXP)
6-propyl-2-thiouracil  (ISO)
7,8-diacetoxy-4-methylcoumarin  (EXP)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
9,10-phenanthroquinone  (EXP)
acetylcholine  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
agmatine  (EXP)
AICA ribonucleotide  (ISO)
alcohol  (EXP,ISO)
aldehydo-D-glucose  (EXP,ISO)
aldrin  (EXP)
alkaloid  (ISO)
all-trans-retinoic acid  (EXP)
all-trans-retinol  (ISO)
allopurinol  (ISO)
alpha-hexachlorocyclohexane  (EXP)
alpha-Zearalanol  (EXP,ISO)
ambrisentan  (ISO)
aminoguanidine  (ISO)
amiodarone  (EXP)
amitrole  (ISO)
amlodipine  (ISO)
ammonium chloride  (ISO)
anagliptin  (EXP)
andrographolide  (ISO)
ANTU  (ISO)
apocynin  (EXP,ISO)
aristolochic acid A  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP,ISO)
atorvastatin calcium  (EXP,ISO)
ATP  (EXP)
atrasentan  (ISO)
atrazine  (EXP,ISO)
axitinib  (EXP)
Azoxymethane  (ISO)
azoxystrobin  (EXP)
BAPTA  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
benzoic acid  (EXP)
beta-naphthoflavone  (EXP,ISO)
bezafibrate  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (ISO)
bisphenol AF  (ISO)
bisphenol F  (ISO)
bosentan  (ISO)
bradykinin  (EXP)
Butylbenzyl phthalate  (ISO)
C60 fullerene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
Calcimycin  (EXP,ISO)
calciol  (ISO)
calcitriol  (ISO)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
calmidazolium  (ISO)
camostat  (ISO)
candesartan  (EXP,ISO)
Candesartan cilexetil  (ISO)
cantharidin  (EXP)
capsaicin  (EXP,ISO)
carbon monoxide  (ISO)
carbon nanotube  (EXP,ISO)
Cardamonin  (ISO)
carvedilol  (EXP,ISO)
cetirizine  (ISO)
CGS-21680  (ISO)
chelerythrine  (ISO)
chlorogenic acid  (EXP)
chlorophyll a  (ISO)
chlorpyrifos  (EXP)
choline  (ISO)
chromium atom  (ISO)
chrysin  (ISO)
cilostazol  (EXP)
cis-caffeic acid  (EXP)
cisplatin  (ISO)
cloricromen  (ISO)
cobalt dichloride  (EXP,ISO)
cocaine  (EXP,ISO)
coenzyme Q10  (EXP)
cordycepin  (EXP)
curcumin  (EXP)
cyanidin cation  (EXP)
cycloheximide  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
D-glucose  (EXP,ISO)
daidzein  (EXP)
DDE  (EXP)
Decursin  (ISO)
deguelin  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diallyl disulfide  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP,ISO)
dibenz[a,h]anthracene  (ISO)
dibenziodolium  (EXP)
dibutyl phthalate  (EXP,ISO)
dichlorine  (ISO)
digitoxin  (EXP)
digoxin  (ISO)
diisononyl phthalate  (ISO)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP,ISO)
doxorubicin  (EXP,ISO)
edaravone  (EXP,ISO)
elemental selenium  (ISO)
enalapril  (ISO)
endosulfan  (EXP,ISO)
enzyme inhibitor  (ISO)
eplerenone  (ISO)
equol  (EXP)
erucic acid  (ISO)
esculetin  (ISO)
estriol  (EXP)
ethanol  (ISO)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (EXP)
EUK-8  (ISO)
everolimus  (EXP)
fenofibrate  (EXP)
fenpyroximate  (EXP)
Fexofenadine hydrochloride  (ISO)
fipronil  (ISO)
fluoranthene  (EXP)
fluorene  (EXP)
flutamide  (ISO)
fluvastatin  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (ISO)
formic acid  (ISO)
formononetin  (ISO)
fosinopril  (ISO)
fructose  (EXP,ISO)
fulvestrant  (EXP,ISO)
furosemide  (ISO)
genistein  (EXP)
gentamycin  (ISO)
ginsenoside Re  (EXP)
Ginsenoside Rg5  (ISO)
gliclazide  (ISO)
glucose  (EXP,ISO)
glycochenodeoxycholic acid  (EXP)
GW 501516  (EXP)
hemin  (ISO)
hexachlorobenzene  (EXP,ISO)
hexacosan-1-ol  (ISO)
hexadecanoic acid  (EXP,ISO)
high-density lipoprotein cholesterol  (EXP)
histamine  (ISO)
homocysteine  (EXP,ISO)
hydrochlorothiazide  (ISO)
hydrogen chloride  (ISO)
hydrogen peroxide  (EXP)
icariin  (EXP,ISO)
indometacin  (ISO)
iron dextran  (EXP,ISO)
isoprenaline  (ISO)
isorhamnetin  (EXP)
isosorbide dinitrate  (EXP)
kaempferol  (ISO)
ketoconazole  (ISO)
L-arginine  (EXP)
L-ascorbic acid  (EXP,ISO)
L-erythro-7,8-dihydrobiopterin  (EXP)
lamivudine  (EXP)
lead diacetate  (EXP,ISO)
lead(0)  (ISO)
lead(II) chloride  (EXP)
levamisole  (EXP)
linoleic acid  (EXP)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
lithium atom  (ISO)
lithium carbonate  (ISO)
lithium hydride  (ISO)
losartan  (ISO)
luteolin  (ISO)
LY294002  (EXP,ISO)
lysophosphatidylcholine  (ISO)
Magnolol  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (ISO)
manidipine  (ISO)
masoprocol  (EXP)
medroxyprogesterone acetate  (EXP,ISO)
melatonin  (EXP)
menadione  (ISO)
mercury dichloride  (ISO)
metformin  (EXP,ISO)
methacholine chloride  (ISO)
methamphetamine  (EXP,ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methotrexate  (EXP,ISO)
metoprolol  (ISO)
mevalonic acid  (EXP)
microcystin-LR  (ISO)
mifepristone  (EXP)
miquelianin  (EXP)
MK-2206  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monocrotaline  (ISO)
myricitrin  (EXP)
N(gamma)-nitro-L-arginine methyl ester  (EXP,ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
N-desethylamiodarone  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
naphthalene  (EXP)
nebivolol  (EXP,ISO)
nickel atom  (EXP,ISO)
nickel dichloride  (EXP)
nicorandil  (ISO)
nicotine  (EXP)
nicotinic acid  (ISO)
nifedipine  (EXP)
nitrates  (ISO)
nitric oxide  (EXP,ISO)
nitrites  (EXP,ISO)
nitrofen  (ISO)
nitrogen dioxide  (EXP,ISO)
nitroglycerin  (ISO)
nitroprusside  (EXP,ISO)
notoginsenoside R1  (ISO)
okadaic acid  (EXP)
oleic acid  (EXP)
olmesartan  (ISO)
orotic acid  (EXP)
orphenadrine  (ISO)
Osajin  (EXP)
ouabain  (ISO)
ozone  (ISO)
paclitaxel  (EXP)
palytoxin  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
paricalcitol  (ISO)
PD123319  (EXP)
pentaerythritol tetranitrate  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
peroxynitrous acid  (EXP)
Pf-06840003  (EXP)
phenylarsine oxide  (EXP,ISO)
phenylephrine  (ISO)
phloretin  (EXP)
phlorizin  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
phosphane  (ISO)
picoxystrobin  (EXP)
pinostrobin  (EXP)
pioglitazone  (ISO)
pirinixic acid  (ISO)
plerixafor  (EXP)
Pomiferin  (EXP)
potassium chloride  (ISO)
pravastatin  (ISO)
procymidone  (ISO)
progesterone  (EXP,ISO)
propazine  (EXP)
propiconazole  (ISO)
propranolol  (ISO)
protoporphyrin  (EXP)
puerarin  (EXP,ISO)
quercetin  (EXP,ISO)
quinapril hydrochloride  (ISO)
quinolinic acid  (ISO)
rac-lactic acid  (EXP)
raloxifene  (ISO)
ramipril  (ISO)
reactive oxygen species  (ISO)
resveratrol  (EXP,ISO)
ritonavir  (EXP)
Rosavin  (EXP)
rosmarinic acid  (ISO)
rosuvastatin calcium  (EXP,ISO)
rotenone  (EXP)
roxarsone  (EXP)
S-nitrosoglutathione  (EXP)
salicylic acid  (ISO)
salsalate  (ISO)
sapropterin  (EXP,ISO)
sarpogrelate  (ISO)
SB 203580  (EXP)
scutellarin  (ISO)
selenium atom  (ISO)
sepiapterin  (EXP)
sibutramine  (EXP)
sildenafil citrate  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
simazine  (EXP,ISO)
simvastatin  (EXP,ISO)
sirolimus  (EXP,ISO)
SKF-96365 hydrochloride  (EXP)
sodium arsenite  (EXP,ISO)
sodium atom  (ISO)
sodium azide  (EXP)
sodium chloride  (ISO)
sodium nitrate  (ISO)
Sodium salicylate  (EXP,ISO)
Soman  (ISO)
sorafenib  (ISO)
stilbenoid  (EXP)
streptozocin  (ISO)
sucrose  (ISO)
sulfadimethoxine  (ISO)
sulfur dioxide  (ISO)
superoxide  (EXP,ISO)
T-2 toxin  (ISO)
tacrolimus (anhydrous)  (ISO)
tacrolimus hydrate  (EXP,ISO)
tamoxifen  (ISO)
tangeretin  (ISO)
Tanshinone I  (EXP,ISO)
tartrazine  (ISO)
tebufenpyrad  (EXP)
telmisartan  (ISO)
tenofovir disoproxil fumarate  (EXP)
terbutylazine  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
tetrahydrocurcumin  (ISO)
tetramethylpyrazine  (EXP)
theaflavin  (ISO)
thioacetamide  (ISO)
thymoquinone  (ISO)
thyroxine  (ISO)
Tiron  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
toluene 2,4-diisocyanate  (EXP)
torcetrapib  (EXP,ISO)
trans-caffeic acid  (EXP)
trans-cinnamic acid  (EXP)
tributylstannane  (ISO)
trichloroethene  (EXP,ISO)
triclosan  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (EXP)
tyrphostin AG 1478  (EXP)
ubiquinones  (EXP)
udenafil  (ISO)
uranium atom  (ISO)
urethane  (ISO)
ursolic acid  (ISO)
valsartan  (ISO)
vanadium atom  (EXP)
vanadium(0)  (EXP)
vanillic acid  (EXP)
vitamin E  (ISO)
wortmannin  (EXP,ISO)
Y-27632  (EXP)
zidovudine  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)
zingiberene  (ISO)
zolmitriptan  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IEA)
aortic valve morphogenesis  (IEA,ISS,TAS)
blood circulation  (IEA)
blood vessel diameter maintenance  (IEA,ISS)
blood vessel remodeling  (IEA,ISS)
bone development  (ISO)
calcium ion transport  (IEA)
cell redox homeostasis  (IEA,TAS)
cellular response to cAMP  (ISO)
cellular response to growth factor stimulus  (ISO)
cellular response to heat  (ISO)
cellular response to high density lipoprotein particle stimulus  (ISO)
cellular response to insulin stimulus  (ISO)
cellular response to low-density lipoprotein particle stimulus  (ISO)
cellular response to magnesium ion  (ISO)
cellular response to mechanical stimulus  (ISO)
cellular response to rotenone  (ISO)
cellular response to transforming growth factor beta stimulus  (ISO)
cellular response to tumor necrosis factor  (ISO)
endocardial cushion morphogenesis  (IEA,ISS)
endothelial cell migration  (IMP)
establishment of localization in cell  (IEA)
female pregnancy  (ISO)
gene expression  (IEA)
homeostasis of number of cells within a tissue  (IEA,ISS)
in utero embryonic development  (IEA)
L-arginine catabolic process  (IBA,IDA)
lipopolysaccharide-mediated signaling pathway  (IEA)
lung development  (IEA)
mitochondrion organization  (ISS)
negative regulation of biomineral tissue development  (IEA,ISS)
negative regulation of blood pressure  (IBA)
negative regulation of calcium ion transport  (IEA)
negative regulation of cell population proliferation  (IEA,ISS)
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  (ISS)
negative regulation of hydrolase activity  (ISO)
negative regulation of muscle hyperplasia  (IEA,ISS)
negative regulation of platelet activation  (NAS)
negative regulation of potassium ion transport  (IEA)
negative regulation of smooth muscle cell proliferation  (IEA,ISO)
nitric oxide biosynthetic process  (IBA,IDA,IEA,ISO)
nitric oxide mediated signal transduction  (IBA)
nitric oxide metabolic process  (ISO,TAS)
ovulation from ovarian follicle  (IEA)
positive regulation of angiogenesis  (IDA,IEA,ISS)
positive regulation of apoptotic process  (ISO)
positive regulation of blood vessel endothelial cell migration  (IDA)
positive regulation of gene expression  (IEA,ISS)
positive regulation of Notch signaling pathway  (IC)
potassium ion transport  (IEA)
protein import into nucleus  (IEA)
pulmonary valve morphogenesis  (IEA,ISS)
regulation of blood pressure  (NAS)
regulation of nervous system process  (IEA,ISS)
regulation of sodium ion transport  (IEA)
regulation of systemic arterial blood pressure by endothelin  (IMP)
regulation of the force of heart contraction by chemical signal  (IEA)
removal of superoxide radicals  (IDA)
response to activity  (ISO)
response to amino acid  (ISO)
response to axon injury  (ISO)
response to carbohydrate  (ISO)
response to corticosterone  (ISO)
response to cytokine  (ISO)
response to erythropoietin  (ISO)
response to estradiol  (ISO)
response to ethanol  (ISO)
response to fluid shear stress  (IEP)
response to fructose  (ISO)
response to heat  (NAS)
response to hormone  (IBA)
response to hyperoxia  (ISO)
response to hypoxia  (ISO)
response to ketone  (ISO)
response to L-arginine  (ISO)
response to lead ion  (ISO)
response to lipopolysaccharide  (IBA,ISO)
response to magnetism  (ISO)
response to mechanical stimulus  (ISO)
response to mercury ion  (ISO)
response to metal ion  (ISO)
response to nicotine  (ISO)
response to nutrient levels  (ISO)
response to peptide  (ISO)
response to peptide hormone  (ISO)
response to salt  (ISO)
response to ultrasound  (ISO)
response to xenobiotic stimulus  (ISO)
retina development in camera-type eye  (ISO)
smooth muscle hyperplasia  (IEA,ISS)
tetrahydrobiopterin metabolic process  (TAS)
vasodilation  (ISO,NAS)
ventricular septum morphogenesis  (IEA)

Cellular Component
apical part of cell  (ISO)
caveola  (IDA,IEA,ISO)
cytoplasm  (IDA,IEA,ISS)
cytoskeleton  (IEA)
cytosol  (IBA,TAS)
endocytic vesicle membrane  (TAS)
Golgi apparatus  (IDA,IEA)
Golgi membrane  (TAS)
nucleus  (IBA,IEA,ISS)
plasma membrane  (IBA,IDA,IEA,TAS)
sarcolemma  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal brain morphology  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal fundus fluorescein angiography  (IAGP)
Abnormal lymphocyte count  (IAGP)
Abnormal optical coherence tomography  (IAGP)
Abnormal posterior segment imaging  (IAGP)
Abnormal systemic blood pressure  (IAGP)
Adult onset  (IAGP)
Albuminuria  (IAGP)
Alzheimer disease  (IAGP)
Arterial stenosis  (IAGP)
Autosomal dominant inheritance  (IAGP)
Coronary artery stenosis  (IAGP)
Decreased circulating GABA concentration  (IAGP)
Dementia  (IAGP)
Eclampsia  (IAGP)
Edema  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated diastolic blood pressure  (IAGP)
Elevated mean arterial pressure  (IAGP)
Elevated systolic blood pressure  (IAGP)
Focal-onset seizure  (IAGP)
Genital ulcers  (IAGP)
Headache  (IAGP)
Hypertension  (IAGP)
Hypertension resistant to conventional therapy  (IAGP)
Immunologic hypersensitivity  (IAGP)
Increased carotid artery intimal medial thickness  (IAGP)
Increased circulating IgE concentration  (IAGP)
Increased CSF lactate  (IAGP)
Increased cup-to-disc ratio  (IAGP)
Intrauterine growth retardation  (IAGP)
Ischemic stroke  (IAGP)
Localized skin lesion  (IAGP)
Long-tract sign  (IAGP)
Marcus Gunn pupil  (IAGP)
Maternal hypertension  (IAGP)
Neurofibrillary tangles  (IAGP)
Non-Mendelian inheritance  (IAGP)
Nyctalopia  (IAGP)
Ocular hypertension  (IAGP)
Optic neuropathy  (IAGP)
Oral ulcer  (IAGP)
Papilledema  (IAGP)
Parkinsonism  (IAGP)
Peripheral visual field loss  (IAGP)
Preeclampsia  (IAGP)
Premature ovarian insufficiency  (IAGP)
Proteinuria  (IAGP)
Reduced left ventricular ejection fraction  (IAGP)
Seizure  (IAGP)
Stroke  (IAGP)
Thrombocytopenia  (IAGP)
Tricuspid regurgitation  (IAGP)
Uveitis  (IAGP)
Visual field defect  (IAGP)
Visual loss  (IAGP)
References

References - curated
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35. Exercise training induces eNOS coupling and restores relaxation in coronary arteries of heart failure rats. Couto GK, etal., Am J Physiol Heart Circ Physiol. 2018 Jan 5. doi: 10.1152/ajpheart.00624.2017.
36. Cardiac oxidative stress is elevated at the onset of dilated cardiomyopathy in streptozotocin-diabetic rats. Crespo MJ, etal., J Cardiovasc Pharmacol Ther. 2008 Mar;13(1):64-71.
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63. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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85. Up-regulated eNOS protects blood-retinal barrier in the L-arginine treated ischemic rat retina. Ju WK, etal., Neuroreport. 2001 Aug 8;12(11):2405-9.
86. Esculetin ameliorates vascular perturbation by intervening in the occupancy of H2BK120Ub at At1, At2, Tgfß1 and Mcp1 promoter gene in thoracic aorta of IR and T2D rats. Kadakol A, etal., Biomed Pharmacother. 2017 Nov;95:1461-1468. doi: 10.1016/j.biopha.2017.09.067. Epub 2017 Sep 21.
87. Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: interactions with hypertension, alcohol intake, and cigarette smoking. Kang JH, etal., Arch Ophthalmol. 2011 Jun;129(6):773-80. doi: 10.1001/archophthalmol.2011.118.
88. Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: interactions with sex and postmenopausal hormone use. Kang JH, etal., Invest Ophthalmol Vis Sci. 2010 Feb;51(2):971-9. doi: 10.1167/iovs.09-4266. Epub 2009 Oct 8.
89. Implantation of mesenchymal stem cells overexpressing endothelial nitric oxide synthase improves right ventricular impairments caused by pulmonary hypertension. Kanki-Horimoto S, etal., Circulation. 2006 Jul 4;114(1 Suppl):I181-5.
90. Lack of evidence for association between endothelial nitric oxide synthase gene polymorphism (glu298asp) with Behcet's disease in the Turkish population. Kara N, etal., Arch Dermatol Res. 2006 Apr;297(10):468-71. Epub 2006 Feb 7.
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PMID:34499618   PMID:34502464   PMID:34542035   PMID:34570692   PMID:34620931   PMID:34638626   PMID:34662360   PMID:34779284   PMID:34860335   PMID:34999313   PMID:35069435   PMID:35138322  
PMID:35195045   PMID:35213910   PMID:35222579   PMID:35254039   PMID:35260951   PMID:35307690   PMID:35377131   PMID:35460403   PMID:35489051   PMID:35512704   PMID:35598133   PMID:35647851  
PMID:35673977   PMID:35699093   PMID:35716966   PMID:35758459   PMID:35772285   PMID:35773625   PMID:35787227   PMID:35899992   PMID:35947685   PMID:35988586   PMID:35988847   PMID:36053923  
PMID:36252968   PMID:36288877   PMID:36335301   PMID:36368188   PMID:36584289   PMID:36688959   PMID:36723332   PMID:36754152   PMID:36758021   PMID:36823679   PMID:36829141   PMID:36845669  
PMID:36896947   PMID:36932233   PMID:36941667   PMID:37037281   PMID:37075583   PMID:37147942   PMID:37175633   PMID:37219667   PMID:37241060   PMID:37327284   PMID:37353997   PMID:37356259  
PMID:37451608   PMID:37547981   PMID:37558720   PMID:37579299   PMID:37651195   PMID:37679510   PMID:37840513   PMID:37902933   PMID:37952311   PMID:38052807   PMID:38069081   PMID:38086755  
PMID:38102979   PMID:38254711   PMID:38309470   PMID:38462124   PMID:38519897   PMID:38967279   PMID:39025213   PMID:39148387   PMID:39169347   PMID:39178948   PMID:39242633   PMID:39322022  
PMID:39332480   PMID:39467677  


Genomics

Comparative Map Data
NOS3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387150,991,017 - 151,014,588 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7150,991,017 - 151,015,653 (+)Ensemblhg38GRCh38
GRCh377150,688,105 - 150,711,676 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367150,319,080 - 150,342,609 (+)NCBIBuild 36Build 36hg18NCBI36
Build 347150,125,794 - 150,149,323NCBI
Celera7145,245,139 - 145,269,020 (+)NCBICelera
Cytogenetic Map7q36.1NCBI
HuRef7144,500,690 - 144,524,025 (+)NCBIHuRef
CHM1_17150,696,541 - 150,720,093 (+)NCBICHM1_1
T2T-CHM13v2.07152,163,824 - 152,187,711 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27150,017,398 - 150,041,276 (+)NCBI
Nos3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39524,569,772 - 24,589,472 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl524,569,808 - 24,589,472 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38524,364,816 - 24,384,474 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl524,364,810 - 24,384,474 (+)Ensemblmm10GRCm38
MGSCv37523,870,637 - 23,890,292 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36523,874,884 - 23,894,536 (+)NCBIMGSCv36mm8
Celera521,311,457 - 21,334,226 (+)NCBICelera
Cytogenetic Map5A3NCBI
cM Map511.32NCBI
Nos3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8411,686,088 - 11,706,604 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl411,686,268 - 11,706,664 (-)EnsemblGRCr8
mRatBN7.2410,793,834 - 10,814,170 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl410,793,834 - 10,814,166 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx415,940,095 - 15,960,412 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0411,760,284 - 11,780,599 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0410,112,074 - 10,132,387 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.047,321,908 - 7,342,404 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl47,320,668 - 7,342,410 (-)Ensemblrn6Rnor6.0
Rnor_5.047,333,272 - 7,353,767 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.446,158,847 - 6,179,441 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera46,408,408 - 6,428,650 (-)NCBICelera
RGSC_v3.146,158,846 - 6,179,441 (-)NCBI
Cytogenetic Map4q11NCBI
Nos3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554915,438,010 - 5,460,814 (+)Ensembl
ChiLan1.0NW_0049554915,438,228 - 5,457,308 (+)NCBIChiLan1.0ChiLan1.0
NOS3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26187,411,083 - 187,436,160 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1739,421,347 - 39,446,540 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07142,577,334 - 142,600,702 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17154,730,009 - 154,755,233 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7154,730,009 - 154,755,233 (+)EnsemblpanPan2panpan1.1
NOS3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11615,054,196 - 15,072,454 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1615,011,344 - 15,072,277 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1615,662,484 - 15,680,572 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01616,776,276 - 16,794,533 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
UMICH_Zoey_3.11615,148,899 - 15,166,990 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01615,730,292 - 15,748,445 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01615,781,028 - 15,799,144 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Nos3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244051186,457,663 - 6,476,277 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365276,427,093 - 6,446,534 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365276,427,147 - 6,445,770 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NOS3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl186,209,158 - 6,228,943 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1186,209,218 - 6,228,912 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2186,579,253 - 6,602,572 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NOS3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121119,174,829 - 119,196,840 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607215,144,615 - 15,167,202 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nos3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248005,600,212 - 5,619,004 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248005,600,215 - 5,619,020 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Nos3
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v16153,557,887 - 153,577,422 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in NOS3
223 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000603.5(NOS3):c.-51-762= single nucleotide variant CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO [RCV000015059] Chr7:150992991 [GRCh38]
Chr7:150690079 [GRCh37]
Chr7:7q36.1		 risk factor
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) single nucleotide variant Alzheimer disease, late-onset, susceptibility to [RCV000015054]|CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO [RCV000015053]|HYPERTENSION RESISTANT TO CONVENTIONAL THERAPY [RCV000015056]|HYPERTENSION, PREGNANCY-INDUCED, SUSCEPTIBILITY TO [RCV000015055]|Ischemic heart disease, susceptibility to [RCV000015057]|Ischemic stroke [RCV000015058]|Ischemic stroke [RCV002504788]|not provided [RCV001689570]|not specified [RCV000455688] Chr7:150999023 [GRCh38]
Chr7:150696111 [GRCh37]
Chr7:7q36.1		 pathogenic|risk factor|benign
NM_000603.4(NOS3):c.158+96G>A single nucleotide variant Lung cancer [RCV000105824] Chr7:150994057 [GRCh38]
Chr7:150691145 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1 copy number loss See cases [RCV000050552] Chr7:150319864..152674271 [GRCh38]
Chr7:150016953..152371356 [GRCh37]
Chr7:149647886..152002289 [NCBI36]
Chr7:7q36.1		 pathogenic
GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1 copy number loss See cases [RCV000050750] Chr7:143884559..152674271 [GRCh38]
Chr7:143581652..152371356 [GRCh37]
Chr7:143212585..152002289 [NCBI36]
Chr7:7q35-36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1 copy number loss See cases [RCV000051108] Chr7:147250465..159325876 [GRCh38]
Chr7:146947557..159118566 [GRCh37]
Chr7:146578490..158811327 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 copy number loss See cases [RCV000054178] Chr7:143884559..159282390 [GRCh38]
Chr7:143581652..159075079 [GRCh37]
Chr7:143212585..158767840 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1 copy number loss See cases [RCV000054188] Chr7:145699944..159296617 [GRCh38]
Chr7:145397037..159089306 [GRCh37]
Chr7:145027970..158782067 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1 copy number loss See cases [RCV000054189] Chr7:148256584..152332535 [GRCh38]
Chr7:147953676..152029620 [GRCh37]
Chr7:147584609..151660553 [NCBI36]
Chr7:7q36.1		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
NM_000603.4(NOS3):c.1499C>T (p.Ala500Val) single nucleotide variant Malignant melanoma [RCV000067775] Chr7:151001614 [GRCh38]
Chr7:150698702 [GRCh37]
Chr7:150329635 [NCBI36]
Chr7:7q36.1		 not provided
NM_000603.4(NOS3):c.1619G>A (p.Arg540Lys) single nucleotide variant Malignant melanoma [RCV000067776] Chr7:151001937 [GRCh38]
Chr7:150699025 [GRCh37]
Chr7:150329958 [NCBI36]
Chr7:7q36.1		 not provided
NM_000603.4(NOS3):c.2921G>A (p.Gly974Glu) single nucleotide variant Malignant melanoma [RCV000067777] Chr7:151010923 [GRCh38]
Chr7:150708011 [GRCh37]
Chr7:150338944 [NCBI36]
Chr7:7q36.1		 not provided
NM_000603.4(NOS3):c.1690G>A (p.Glu564Lys) single nucleotide variant Malignant melanoma [RCV000061604] Chr7:151002242 [GRCh38]
Chr7:150699330 [GRCh37]
Chr7:150330263 [NCBI36]
Chr7:7q36.1		 not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3 copy number gain See cases [RCV000135825] Chr7:147345844..153833351 [GRCh38]
Chr7:147042936..153530436 [GRCh37]
Chr7:146673869..153161369 [NCBI36]
Chr7:7q35-36.2		 pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1 copy number loss See cases [RCV000136089] Chr7:150486071..159335865 [GRCh38]
Chr7:150183159..159128555 [GRCh37]
Chr7:149814092..158821316 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1 copy number loss See cases [RCV000137465] Chr7:150802801..159335866 [GRCh38]
Chr7:150499889..159128556 [GRCh37]
Chr7:150130822..158821317 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1 copy number loss See cases [RCV000137338] Chr7:145436544..159331441 [GRCh38]
Chr7:145133637..159124131 [GRCh37]
Chr7:144764570..158816892 [NCBI36]
Chr7:7q35-36.3		 pathogenic|likely pathogenic
GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1 copy number loss See cases [RCV000138005] Chr7:145250254..159335866 [GRCh38]
Chr7:144947347..159128556 [GRCh37]
Chr7:144578280..158821317 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1 copy number loss See cases [RCV000137781] Chr7:146047157..157522158 [GRCh38]
Chr7:145744250..157314852 [GRCh37]
Chr7:145375183..157007613 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3 copy number gain See cases [RCV000138566] Chr7:150113232..154162779 [GRCh38]
Chr7:149810321..153859864 [GRCh37]
Chr7:149441254..153490797 [NCBI36]
Chr7:7q36.1-36.2		 likely pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3 copy number gain See cases [RCV000139660] Chr7:150275734..153342804 [GRCh38]
Chr7:149972823..153039889 [GRCh37]
Chr7:149603756..152670822 [NCBI36]
Chr7:7q36.1-36.2		 uncertain significance
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1 copy number loss See cases [RCV000142592] Chr7:150260297..159325876 [GRCh38]
Chr7:149957386..159118566 [GRCh37]
Chr7:149588319..158811327 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1 copy number loss See cases [RCV000143503] Chr7:147144002..159327017 [GRCh38]
Chr7:146841094..159119707 [GRCh37]
Chr7:146472027..158812468 [NCBI36]
Chr7:7q35-36.3		 pathogenic
NM_000603.5(NOS3):c.3544G>A (p.Glu1182Lys) single nucleotide variant not specified [RCV004261393] Chr7:151014101 [GRCh38]
Chr7:150711189 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:143839360-159138663) copy number loss Abnormal esophagus morphology [RCV000416719] Chr7:143839360..159138663 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3 copy number gain See cases [RCV000447776] Chr7:149261179..159075020 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_000603.5(NOS3):c.1752+899G>A single nucleotide variant NOS3-related disorder [RCV003970267]|not provided [RCV004712847]|not specified [RCV000454397] Chr7:151003203 [GRCh38]
Chr7:150700291 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.1998C>G (p.Ala666=) single nucleotide variant NOS3-related disorder [RCV003972728]|not provided [RCV001683501]|not specified [RCV000454549] Chr7:151007162 [GRCh38]
Chr7:150704250 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.3351T>C (p.Val1117=) single nucleotide variant not provided [RCV001653803]|not specified [RCV000454699] Chr7:151013819 [GRCh38]
Chr7:150710907 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.2984+15A>G single nucleotide variant not provided [RCV001683502]|not specified [RCV000455219] Chr7:151011001 [GRCh38]
Chr7:151011001..151011002 [GRCh38]
Chr7:150708089 [GRCh37]
Chr7:150708089..150708090 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.774T>C (p.Asp258=) single nucleotide variant not provided [RCV001595006]|not specified [RCV000455232] Chr7:150998638 [GRCh38]
Chr7:150695726 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.3106+11G>T single nucleotide variant not provided [RCV001672769]|not specified [RCV000455864] Chr7:151012483 [GRCh38]
Chr7:150709571 [GRCh37]
Chr7:7q36.1		 benign
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4 copy number gain See cases [RCV000511618] Chr7:148189771..150867270 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:150553743-159119707)x3 copy number gain See cases [RCV000510762] Chr7:150553743..159119707 [GRCh37]
Chr7:7q36.1-36.3		 likely pathogenic
NM_000603.5(NOS3):c.2120G>C (p.Cys707Ser) single nucleotide variant not specified [RCV004313588] Chr7:151008937 [GRCh38]
Chr7:150706025 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.754G>T (p.Ala252Ser) single nucleotide variant not specified [RCV004316298] Chr7:150998618 [GRCh38]
Chr7:150695706 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
NM_000603.5(NOS3):c.2215G>A (p.Ala739Thr) single nucleotide variant not specified [RCV004297760] Chr7:151009032 [GRCh38]
Chr7:150706120 [GRCh37]
Chr7:7q36.1		 likely benign
NC_000007.13:g.(?_150642433)_(151573725_?)del deletion Long QT syndrome [RCV000631876] Chr7:150642433..151573725 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000603.5(NOS3):c.-51-762C>T single nucleotide variant Metabolic syndrome, susceptibility to [RCV000678037] Chr7:150992991 [GRCh38]
Chr7:150690079 [GRCh37]
Chr7:7q36.1		 protective
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q35-36.1(chr7:143711059-152573935)x3 copy number gain not provided [RCV000747094] Chr7:143711059..152573935 [GRCh37]
Chr7:7q35-36.1		 benign
GRCh37/hg19 7q36.1-36.3(chr7:148238976-159126310)x1 copy number loss not provided [RCV000747115] Chr7:148238976..159126310 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NM_000603.5(NOS3):c.1648-38G>T single nucleotide variant not provided [RCV001611487] Chr7:151002162 [GRCh38]
Chr7:150699250 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.1503-30A>G single nucleotide variant not provided [RCV001667430] Chr7:151001791 [GRCh38]
Chr7:150698879 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.2513-86T>C single nucleotide variant not provided [RCV001708119] Chr7:151010029 [GRCh38]
Chr7:150707117 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.1752+1554C>A single nucleotide variant not provided [RCV001611849] Chr7:151003858 [GRCh38]
Chr7:150700946 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.1752+1245A>G single nucleotide variant not provided [RCV001535301] Chr7:151003549 [GRCh38]
Chr7:150700637 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.271-62C>G single nucleotide variant not provided [RCV001680927] Chr7:150996342 [GRCh38]
Chr7:150693430 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.3256-12G>A single nucleotide variant not provided [RCV001693261] Chr7:151013712 [GRCh38]
Chr7:150710800 [GRCh37]
Chr7:7q36.1		 benign
NC_000007.13:g.(?_150642443)_(151385353_?)dup duplication Long QT syndrome [RCV001031214] Chr7:150642443..151385353 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.817-26A>G single nucleotide variant not provided [RCV001666083] Chr7:150998920 [GRCh38]
Chr7:150696008 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.3414G>A (p.Glu1138=) single nucleotide variant not provided [RCV000972254] Chr7:151013882 [GRCh38]
Chr7:150710970 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.816+9C>T single nucleotide variant not provided [RCV000883721] Chr7:150998689 [GRCh38]
Chr7:150695777 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.3180G>A (p.Glu1060=) single nucleotide variant not provided [RCV000903342] Chr7:151013304 [GRCh38]
Chr7:150710392 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.1251C>T (p.Ile417=) single nucleotide variant NOS3-related disorder [RCV003923282]|not provided [RCV000921047] Chr7:151001248 [GRCh38]
Chr7:150698336 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.3324G>C (p.Arg1108=) single nucleotide variant not provided [RCV000880831] Chr7:151013792 [GRCh38]
Chr7:150710880 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000603.5(NOS3):c.24C>T (p.Ala8=) single nucleotide variant not provided [RCV000942300] Chr7:150993827 [GRCh38]
Chr7:150690915 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.2112+9A>G single nucleotide variant not provided [RCV000884542] Chr7:151007285 [GRCh38]
Chr7:150704373 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.861C>T (p.Asp287=) single nucleotide variant NOS3-related disorder [RCV004756124]|not provided [RCV000948794] Chr7:150998990 [GRCh38]
Chr7:150696078 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.2436G>A (p.Ala812=) single nucleotide variant not provided [RCV000983067] Chr7:151009509 [GRCh38]
Chr7:150706597 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.3165T>C (p.His1055=) single nucleotide variant not provided [RCV000937799] Chr7:151013289 [GRCh38]
Chr7:150710377 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.3156A>G (p.Gln1052=) single nucleotide variant not provided [RCV000883151] Chr7:151013280 [GRCh38]
Chr7:150710368 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_000603.5(NOS3):c.1713C>T (p.Thr571=) single nucleotide variant not provided [RCV000980364] Chr7:151002265 [GRCh38]
Chr7:150699353 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.3468C>T (p.His1156=) single nucleotide variant not provided [RCV000917625]|not specified [RCV004702521] Chr7:151014025 [GRCh38]
Chr7:150711113 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.1413G>A (p.Pro471=) single nucleotide variant not provided [RCV000928146] Chr7:151001410 [GRCh38]
Chr7:150698498 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.3403G>A (p.Gly1135Ser) single nucleotide variant not provided [RCV000921140] Chr7:151013871 [GRCh38]
Chr7:150710959 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.2567G>A (p.Arg856His) single nucleotide variant not provided [RCV000897435] Chr7:151010169 [GRCh38]
Chr7:150707257 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.3009C>T (p.Pro1003=) single nucleotide variant not provided [RCV000981183] Chr7:151012375 [GRCh38]
Chr7:150709463 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.1131+9C>T single nucleotide variant not provided [RCV000981809] Chr7:150999373 [GRCh38]
Chr7:150696461 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.696G>A (p.Pro232=) single nucleotide variant not provided [RCV000928500] Chr7:150998560 [GRCh38]
Chr7:150695648 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.465C>G (p.Ala155=) single nucleotide variant Ischemic stroke [RCV002489260]|not provided [RCV000939761] Chr7:150996808 [GRCh38]
Chr7:150693896 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000603.5(NOS3):c.2113-4G>A single nucleotide variant not provided [RCV000924475] Chr7:151008926 [GRCh38]
Chr7:150706014 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.2814G>T (p.Arg938=) single nucleotide variant NOS3-related disorder [RCV004756105]|not provided [RCV000916158] Chr7:151010725 [GRCh38]
Chr7:150707813 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000603.5(NOS3):c.78C>T (p.Cys26=) single nucleotide variant not provided [RCV000915893] Chr7:150993881 [GRCh38]
Chr7:150690969 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.1264G>A (p.Ala422Thr) single nucleotide variant NOS3-related disorder [RCV003950416]|not provided [RCV000893138] Chr7:151001261 [GRCh38]
Chr7:150698349 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000603.5(NOS3):c.520G>A (p.Ala174Thr) single nucleotide variant not provided [RCV000915652] Chr7:150996863 [GRCh38]
Chr7:150693951 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7q36.1(chr7:150112013-150707556)x3 copy number gain not provided [RCV000847609] Chr7:150112013..150707556 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1707G>A (p.Val569=) single nucleotide variant not provided [RCV000914446] Chr7:151002259 [GRCh38]
Chr7:150699347 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
NM_000603.5(NOS3):c.859G>A (p.Asp287Asn) single nucleotide variant not provided [RCV000892839] Chr7:150998988 [GRCh38]
Chr7:150696076 [GRCh37]
Chr7:7q36.1		 benign
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:149968222-152539376)x3 copy number gain not provided [RCV000847582] Chr7:149968222..152539376 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
NM_000603.5(NOS3):c.284C>T (p.Thr95Ile) single nucleotide variant Essential hypertension [RCV001198168] Chr7:150996417 [GRCh38]
Chr7:150693505 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2112+36C>A single nucleotide variant not provided [RCV001666200] Chr7:151007312 [GRCh38]
Chr7:150704400 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.1752+80AC[29] microsatellite not provided [RCV001682498] Chr7:151002384..151002395 [GRCh38]
Chr7:150699472..150699483 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.1752+219C>G single nucleotide variant not provided [RCV001694913] Chr7:151002523 [GRCh38]
Chr7:150699611 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.335G>A (p.Arg112Gln) single nucleotide variant NOS3-related disorder [RCV004756270]|not provided [RCV001540077] Chr7:150996468 [GRCh38]
Chr7:150693556 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.3559G>A (p.Gly1187Ser) single nucleotide variant not specified [RCV004313028] Chr7:151014116 [GRCh38]
Chr7:150711204 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2654G>T (p.Arg885Met) single nucleotide variant not provided [RCV000975171] Chr7:151010256 [GRCh38]
Chr7:150707344 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.1656T>C (p.Cys552=) single nucleotide variant not provided [RCV000927415] Chr7:151002208 [GRCh38]
Chr7:150699296 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.816+10G>A single nucleotide variant not provided [RCV000933567] Chr7:150998690 [GRCh38]
Chr7:150695778 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.1464C>G (p.Thr488=) single nucleotide variant not provided [RCV000952927] Chr7:151001579 [GRCh38]
Chr7:150698667 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.270+9G>A single nucleotide variant not provided [RCV000977376] Chr7:150995323 [GRCh38]
Chr7:150692411 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.3498C>A (p.Thr1166=) single nucleotide variant not provided [RCV000910050] Chr7:151014055 [GRCh38]
Chr7:150711143 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.3474C>T (p.Asp1158=) single nucleotide variant not provided [RCV000886206] Chr7:151014031 [GRCh38]
Chr7:150711119 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.271-7G>T single nucleotide variant not provided [RCV000888330] Chr7:150996397 [GRCh38]
Chr7:150693485 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.957-7C>T single nucleotide variant NOS3-related disorder [RCV003977970]|not provided [RCV000910278] Chr7:150999183 [GRCh38]
Chr7:150696271 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.1503-4G>A single nucleotide variant not provided [RCV000931385] Chr7:151001817 [GRCh38]
Chr7:150698905 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.2460G>A (p.Pro820=) single nucleotide variant NOS3-related disorder [RCV003925993]|not provided [RCV000954044] Chr7:151009533 [GRCh38]
Chr7:150706621 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000603.5(NOS3):c.383G>A (p.Arg128Gln) single nucleotide variant NOS3-related disorder [RCV003960664]|not provided [RCV000955385] Chr7:150996516 [GRCh38]
Chr7:150693604 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000603.5(NOS3):c.2561C>T (p.Thr854Met) single nucleotide variant not provided [RCV000910855] Chr7:151010163 [GRCh38]
Chr7:150707251 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.801C>T (p.Asn267=) single nucleotide variant not provided [RCV000961154] Chr7:150998665 [GRCh38]
Chr7:150695753 [GRCh37]
Chr7:7q36.1		 likely benign
NC_000007.13:g.(?_150066801)_(150759750_?)del deletion Long QT syndrome [RCV001031491] Chr7:150066801..150759750 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000603.5(NOS3):c.1994G>A (p.Arg665His) single nucleotide variant not provided [RCV000956546] Chr7:151007158 [GRCh38]
Chr7:150704246 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.1266C>T (p.Ala422=) single nucleotide variant not provided [RCV000911484] Chr7:151001263 [GRCh38]
Chr7:150698351 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.849C>T (p.Asn283=) single nucleotide variant NOS3-related disorder [RCV003970780]|not provided [RCV000956545] Chr7:150998978 [GRCh38]
Chr7:150696066 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.2622G>A (p.Leu874=) single nucleotide variant not provided [RCV000956547] Chr7:151010224 [GRCh38]
Chr7:150707312 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.1820+160_1820+161insT insertion not provided [RCV001678135] Chr7:151006654..151006655 [GRCh38]
Chr7:150703742..150703743 [GRCh37]
Chr7:7q36.1		 benign
GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1 copy number loss not provided [RCV001006022] Chr7:145962558..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
NM_000603.5(NOS3):c.3255+161A>C single nucleotide variant not provided [RCV001595760] Chr7:151013540 [GRCh38]
Chr7:150710628 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.1752+80AC[30] microsatellite not provided [RCV001677996] Chr7:151002384..151002393 [GRCh38]
Chr7:150699472..150699481 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.2324+28C>A single nucleotide variant not provided [RCV001674014] Chr7:151009295 [GRCh38]
Chr7:150706383 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.1821-62G>T single nucleotide variant not provided [RCV001616826] Chr7:151006827 [GRCh38]
Chr7:150703915 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.2685+113C>T single nucleotide variant not provided [RCV001652379] Chr7:151010400 [GRCh38]
Chr7:150707488 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.2113-176G>A single nucleotide variant not provided [RCV001671661] Chr7:151008754 [GRCh38]
Chr7:150705842 [GRCh37]
Chr7:7q36.1		 benign
GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3 copy number gain not provided [RCV001249383] Chr7:143107740..156886246 [GRCh37]
Chr7:7q35-36.3		 not provided
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_000603.5(NOS3):c.505G>A (p.Glu169Lys) single nucleotide variant Premature ovarian failure [RCV001270208] Chr7:150996848 [GRCh38]
Chr7:150693936 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000603.5(NOS3):c.1052C>T (p.Ala351Val) single nucleotide variant Alzheimer disease [RCV001330005] Chr7:150999285 [GRCh38]
Chr7:150696373 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.172C>T (p.Pro58Ser) single nucleotide variant Premature ovarian failure [RCV001270207] Chr7:150995216 [GRCh38]
Chr7:150692304 [GRCh37]
Chr7:7q36.1		 likely pathogenic
NM_000603.5(NOS3):c.608C>A (p.Ser203Tyr) single nucleotide variant not provided [RCV001354657] Chr7:150998382 [GRCh38]
Chr7:150695470 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150642453)_(152373165_?)dup duplication Long QT syndrome [RCV001327691] Chr7:150642453..152373165 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2554C>T (p.Pro852Ser) single nucleotide variant not provided [RCV001357932] Chr7:151010156 [GRCh38]
Chr7:150707244 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150642443)_(151385353_?)del deletion Long QT syndrome [RCV001380536] Chr7:150642443..151385353 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000603.5(NOS3):c.1132-253C>A single nucleotide variant not provided [RCV001535271] Chr7:151000245 [GRCh38]
Chr7:150697333 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.2325-45dup duplication not provided [RCV001667389] Chr7:151009348..151009349 [GRCh38]
Chr7:150706436..150706437 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.2324+22C>A single nucleotide variant not provided [RCV001710398] Chr7:151009289 [GRCh38]
Chr7:150706377 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.2897-44G>A single nucleotide variant not provided [RCV001654561] Chr7:151010855 [GRCh38]
Chr7:150707943 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.1132-199G>A single nucleotide variant not provided [RCV001678853] Chr7:151000299 [GRCh38]
Chr7:150697387 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.270+42G>A single nucleotide variant not provided [RCV001612178] Chr7:150995356 [GRCh38]
Chr7:150692444 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.1752+80AC[32] microsatellite not provided [RCV001674520] Chr7:151002384..151002389 [GRCh38]
Chr7:150699472..150699477 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.2183G>A (p.Arg728Gln) single nucleotide variant not specified [RCV005236872] Chr7:151009000 [GRCh38]
Chr7:150706088 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.922G>A (p.Glu308Lys) single nucleotide variant not specified [RCV004331690] Chr7:150999051 [GRCh38]
Chr7:150696139 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3 copy number gain not provided [RCV001827941] Chr7:148153261..157543640 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:150109825-150700159) copy number gain not specified [RCV002053744] Chr7:150109825..150700159 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1 copy number loss not provided [RCV001832910] Chr7:148695373..159119707 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NC_000007.13:g.(?_150642453)_(151573705_?)dup duplication Lethal congenital glycogen storage disease of heart [RCV001978713] Chr7:150642453..151573705 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1752+848G>A single nucleotide variant not provided [RCV002223433] Chr7:151003152 [GRCh38]
Chr7:150700240 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150307047)_(152613597_?)del deletion not provided [RCV003113787] Chr7:150307047..152613597 [GRCh37]
Chr7:7q36.1-36.2		 pathogenic
NC_000007.13:g.(?_150324807)_(152373164_?)del deletion not provided [RCV003113606] Chr7:150324807..152373164 [GRCh37]
Chr7:7q36.1		 pathogenic
NC_000007.13:g.(?_150324807)_(152373164_?)dup duplication not provided [RCV003113607] Chr7:150324807..152373164 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150642453)_(151573705_?)del deletion Lethal congenital glycogen storage disease of heart [RCV003119718] Chr7:150642453..151573705 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.3157C>G (p.Leu1053Val) single nucleotide variant not specified [RCV004325895] Chr7:151013281 [GRCh38]
Chr7:150710369 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3 copy number gain not provided [RCV002279740] Chr7:146927174..159128556 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1 copy number loss not provided [RCV002279756] Chr7:149062717..159124131 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:149332630-151498689)x1 copy number loss not provided [RCV002472413] Chr7:149332630..151498689 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000603.5(NOS3):c.382C>T (p.Arg128Trp) single nucleotide variant not specified [RCV004113596] Chr7:150996515 [GRCh38]
Chr7:150693603 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.919C>G (p.Pro307Ala) single nucleotide variant not specified [RCV004126430] Chr7:150999048 [GRCh38]
Chr7:150696136 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.3574G>A (p.Ala1192Thr) single nucleotide variant not specified [RCV004170058] Chr7:151014131 [GRCh38]
Chr7:150711219 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.227T>C (p.Val76Ala) single nucleotide variant not specified [RCV004214957] Chr7:150995271 [GRCh38]
Chr7:150692359 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1963C>T (p.Arg655Trp) single nucleotide variant Alzheimer disease type 1 [RCV004821193] Chr7:151007127 [GRCh38]
Chr7:150704215 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1210G>A (p.Val404Met) single nucleotide variant not specified [RCV004151888] Chr7:151000576 [GRCh38]
Chr7:150697664 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.3593C>T (p.Ser1198Leu) single nucleotide variant not specified [RCV004227372] Chr7:151014150 [GRCh38]
Chr7:150711238 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.629A>G (p.Tyr210Cys) single nucleotide variant not specified [RCV004123387] Chr7:150998403 [GRCh38]
Chr7:150695491 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.3007C>T (p.Pro1003Ser) single nucleotide variant not specified [RCV004083916] Chr7:151012373 [GRCh38]
Chr7:150709461 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.776G>A (p.Gly259Asp) single nucleotide variant not specified [RCV004212324] Chr7:150998640 [GRCh38]
Chr7:150695728 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2570A>G (p.Gln857Arg) single nucleotide variant not specified [RCV004178688] Chr7:151010172 [GRCh38]
Chr7:150707260 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.850G>A (p.Gly284Ser) single nucleotide variant not specified [RCV004228453] Chr7:150998979 [GRCh38]
Chr7:150696067 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2213G>C (p.Ser738Thr) single nucleotide variant not specified [RCV004069708] Chr7:151009030 [GRCh38]
Chr7:150706118 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2471C>T (p.Thr824Ile) single nucleotide variant not provided [RCV005256891]|not specified [RCV004127498] Chr7:151009544 [GRCh38]
Chr7:150706632 [GRCh37]
Chr7:7q36.1		 likely benign|uncertain significance
NM_000603.5(NOS3):c.854G>A (p.Arg285His) single nucleotide variant not specified [RCV004212813] Chr7:150998983 [GRCh38]
Chr7:150696071 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1946T>C (p.Val649Ala) single nucleotide variant not specified [RCV004157416] Chr7:151007110 [GRCh38]
Chr7:150704198 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.704G>T (p.Cys235Phe) single nucleotide variant not specified [RCV004168814] Chr7:150998568 [GRCh38]
Chr7:150695656 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2756C>G (p.Pro919Arg) single nucleotide variant not specified [RCV004194064] Chr7:151010667 [GRCh38]
Chr7:150707755 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.371T>G (p.Leu124Arg) single nucleotide variant not specified [RCV004089881] Chr7:150996504 [GRCh38]
Chr7:150693592 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1507G>A (p.Val503Met) single nucleotide variant not specified [RCV004130869] Chr7:151001825 [GRCh38]
Chr7:150698913 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.3608C>A (p.Pro1203His) single nucleotide variant not specified [RCV004120471] Chr7:151014165 [GRCh38]
Chr7:150711253 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1559C>T (p.Ala520Val) single nucleotide variant not specified [RCV004164982] Chr7:151001877 [GRCh38]
Chr7:150698965 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.271G>A (p.Asp91Asn) single nucleotide variant not specified [RCV004168330] Chr7:150996404 [GRCh38]
Chr7:150693492 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
NM_000603.5(NOS3):c.3460C>G (p.Arg1154Gly) single nucleotide variant not specified [RCV004279565] Chr7:151014017 [GRCh38]
Chr7:150711105 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2476C>T (p.Pro826Ser) single nucleotide variant not specified [RCV004279998] Chr7:151009549 [GRCh38]
Chr7:150706637 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.368T>C (p.Leu123Pro) single nucleotide variant not specified [RCV004317577] Chr7:150996501 [GRCh38]
Chr7:150693589 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1463C>T (p.Thr488Ile) single nucleotide variant not specified [RCV004273857] Chr7:151001578 [GRCh38]
Chr7:150698666 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.225G>C (p.Glu75Asp) single nucleotide variant not specified [RCV004250971] Chr7:150995269 [GRCh38]
Chr7:150692357 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2833G>A (p.Ala945Thr) single nucleotide variant not specified [RCV004272471] Chr7:151010744 [GRCh38]
Chr7:150707832 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1752+1091C>T single nucleotide variant not provided [RCV004597637] Chr7:151003395 [GRCh38]
Chr7:150700483 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.2356G>A (p.Gly786Arg) single nucleotide variant Alzheimer disease type 1 [RCV003337776] Chr7:151009429 [GRCh38]
Chr7:150706517 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2479G>A (p.Val827Met) single nucleotide variant not provided [RCV003423829] Chr7:151009552 [GRCh38]
Chr7:150706640 [GRCh37]
Chr7:7q36.1		 benign
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1 copy number loss not provided [RCV003334300] Chr7:140154317..152551638 [GRCh37]
Chr7:7q34-36.1		 pathogenic
NM_000603.5(NOS3):c.516C>A (p.Phe172Leu) single nucleotide variant not specified [RCV004347483] Chr7:150996859 [GRCh38]
Chr7:150693947 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.146C>T (p.Ala49Val) single nucleotide variant not specified [RCV004345066] Chr7:150993949 [GRCh38]
Chr7:150691037 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1147A>C (p.Met383Leu) single nucleotide variant not specified [RCV004356438] Chr7:151000513 [GRCh38]
Chr7:150697601 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1421G>A (p.Arg474His) single nucleotide variant not specified [RCV004343866] Chr7:151001418 [GRCh38]
Chr7:150698506 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.*6G>A single nucleotide variant not provided [RCV003435299] Chr7:151014175 [GRCh38]
Chr7:150711263 [GRCh37]
Chr7:7q36.1		 benign|likely benign
GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1 copy number loss not provided [RCV003482992] Chr7:148538593..150967829 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000603.5(NOS3):c.2642C>T (p.Ala881Val) single nucleotide variant not provided [RCV003423830] Chr7:151010244 [GRCh38]
Chr7:150707332 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.2325-6C>T single nucleotide variant not provided [RCV003435296] Chr7:151009392 [GRCh38]
Chr7:150706480 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1 copy number loss not provided [RCV003482991] Chr7:144940098..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1 copy number loss not provided [RCV003482989] Chr7:142099013..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_000603.5(NOS3):c.1602C>T (p.Tyr534=) single nucleotide variant not provided [RCV003435295] Chr7:151001920 [GRCh38]
Chr7:150699008 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.3261C>T (p.Tyr1087=) single nucleotide variant not provided [RCV003435298] Chr7:151013729 [GRCh38]
Chr7:150710817 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.1267G>A (p.Ala423Thr) single nucleotide variant NOS3-related disorder [RCV003919216]|not provided [RCV003435294] Chr7:151001264 [GRCh38]
Chr7:150698352 [GRCh37]
Chr7:7q36.1		 benign|likely benign
NM_000603.5(NOS3):c.2985-531G>C single nucleotide variant not provided [RCV003435297] Chr7:151011820 [GRCh38]
Chr7:150708908 [GRCh37]
Chr7:7q36.1		 benign
NM_000603.5(NOS3):c.669C>G (p.Asn223Lys) single nucleotide variant not provided [RCV003435293] Chr7:150998443 [GRCh38]
Chr7:150695531 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.292C>T (p.Arg98Cys) single nucleotide variant NOS3-related disorder [RCV003418879] Chr7:150996425 [GRCh38]
Chr7:150693513 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1 copy number loss not specified [RCV003986691] Chr7:148896264..150963866 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000603.5(NOS3):c.3244G>A (p.Asp1082Asn) single nucleotide variant not specified [RCV004488198] Chr7:151013368 [GRCh38]
Chr7:150710456 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.3450+7A>G single nucleotide variant NOS3-related disorder [RCV003954873] Chr7:151013925 [GRCh38]
Chr7:150711013 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.1271C>T (p.Thr424Met) single nucleotide variant not specified [RCV004488193] Chr7:151001268 [GRCh38]
Chr7:150698356 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2128T>G (p.Phe710Val) single nucleotide variant not specified [RCV004488195] Chr7:151008945 [GRCh38]
Chr7:150706033 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.3142T>C (p.Cys1048Arg) single nucleotide variant not specified [RCV004488197] Chr7:151013266 [GRCh38]
Chr7:150710354 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.3295G>A (p.Glu1099Lys) single nucleotide variant not specified [RCV004488199] Chr7:151013763 [GRCh38]
Chr7:150710851 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.377A>T (p.Gln126Leu) single nucleotide variant not specified [RCV004488202] Chr7:150996510 [GRCh38]
Chr7:150693598 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1250_1259del (p.Ile417fs) deletion Familial cancer of breast [RCV003992663] Chr7:151001243..151001252 [GRCh38]
Chr7:150698331..150698340 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.121G>T (p.Ala41Ser) single nucleotide variant not specified [RCV004488191] Chr7:150993924 [GRCh38]
Chr7:150691012 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2144A>T (p.Asp715Val) single nucleotide variant not specified [RCV004488196] Chr7:151008961 [GRCh38]
Chr7:150706049 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.35G>A (p.Gly12Glu) single nucleotide variant not specified [RCV004488200] Chr7:150993838 [GRCh38]
Chr7:150690926 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1808C>T (p.Pro603Leu) single nucleotide variant not specified [RCV004488194] Chr7:151006482 [GRCh38]
Chr7:150703570 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.790G>T (p.Asp264Tyr) single nucleotide variant not specified [RCV004488203] Chr7:150998654 [GRCh38]
Chr7:150695742 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2945A>T (p.Gln982Leu) single nucleotide variant NOS3-related disorder [RCV003956947] Chr7:151010947 [GRCh38]
Chr7:150708035 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.982C>T (p.Leu328=) single nucleotide variant NOS3-related disorder [RCV003959466] Chr7:150999215 [GRCh38]
Chr7:150696303 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.777C>G (p.Gly259=) single nucleotide variant NOS3-related disorder [RCV003937008] Chr7:150998641 [GRCh38]
Chr7:150695729 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.963G>A (p.Glu321=) single nucleotide variant NOS3-related disorder [RCV003946761] Chr7:150999196 [GRCh38]
Chr7:150696284 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.1951G>A (p.Gly651Arg) single nucleotide variant Alzheimer disease type 1 [RCV003990832] Chr7:151007115 [GRCh38]
Chr7:150704203 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2384C>T (p.Pro795Leu) single nucleotide variant NOS3-related disorder [RCV004756853] Chr7:151009457 [GRCh38]
Chr7:150706545 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1252G>A (p.Val418Met) single nucleotide variant not specified [RCV004488192] Chr7:151001249 [GRCh38]
Chr7:150698337 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3 copy number gain See cases [RCV004442845] Chr7:141690279..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NC_000007.13:g.(?_150643945)_(151573705_?)del deletion Long QT syndrome [RCV004583458] Chr7:150643945..151573705 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000603.5(NOS3):c.319C>T (p.Arg107Trp) single nucleotide variant not specified [RCV004643948] Chr7:150996452 [GRCh38]
Chr7:150693540 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1805G>A (p.Arg602Gln) single nucleotide variant not specified [RCV004643949] Chr7:151006479 [GRCh38]
Chr7:150703567 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2527G>C (p.Gly843Arg) single nucleotide variant not specified [RCV004643950] Chr7:151010129 [GRCh38]
Chr7:150707217 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150324807)_(150706375_?)dup duplication Long QT syndrome [RCV004583463] Chr7:150324807..150706375 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1783G>A (p.Gly595Ser) single nucleotide variant not specified [RCV004647571] Chr7:151006457 [GRCh38]
Chr7:150703545 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.503G>A (p.Ser168Asn) single nucleotide variant not specified [RCV004647572] Chr7:150996846 [GRCh38]
Chr7:150693934 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.364C>G (p.Gln122Glu) single nucleotide variant not specified [RCV004647573] Chr7:150996497 [GRCh38]
Chr7:150693585 [GRCh37]
Chr7:7q36.1		 uncertain significance
NC_000007.13:g.(?_150324807)_(150706375_?)del deletion Long QT syndrome [RCV004583455] Chr7:150324807..150706375 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_000603.5(NOS3):c.700C>T (p.Arg234Cys) single nucleotide variant not specified [RCV004643947] Chr7:150998564 [GRCh38]
Chr7:150695652 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2502G>A (p.Lys834=) single nucleotide variant NOS3-related disorder [RCV004756849] Chr7:151009575 [GRCh38]
Chr7:150706663 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.1740G>A (p.Pro580=) single nucleotide variant NOS3-related disorder [RCV004757012] Chr7:151002292 [GRCh38]
Chr7:150699380 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.1162C>T (p.Arg388Trp) single nucleotide variant not provided [RCV004722572] Chr7:151000528 [GRCh38]
Chr7:150697616 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.674+1G>A single nucleotide variant not specified [RCV004702759] Chr7:150998449 [GRCh38]
Chr7:150695537 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1327G>A (p.Ala443Thr) single nucleotide variant not specified [RCV004830096] Chr7:151001324 [GRCh38]
Chr7:150698412 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.695C>T (p.Pro232Leu) single nucleotide variant not specified [RCV004830099] Chr7:150998559 [GRCh38]
Chr7:150695647 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.256G>A (p.Ala86Thr) single nucleotide variant not specified [RCV004830102] Chr7:150995300 [GRCh38]
Chr7:150692388 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.68T>C (p.Leu23Pro) single nucleotide variant not specified [RCV004830108] Chr7:150993871 [GRCh38]
Chr7:150690959 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.3262G>A (p.Val1088Met) single nucleotide variant not specified [RCV004830110] Chr7:151013730 [GRCh38]
Chr7:150710818 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.592G>A (p.Ala198Thr) single nucleotide variant not specified [RCV004830116] Chr7:150998366 [GRCh38]
Chr7:150695454 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q34-36.3(chr7:142491993-159119707)x3 copy number gain not provided [RCV004819304] Chr7:142491993..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:147773827-159119707)x1 copy number loss not provided [RCV004819356] Chr7:147773827..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
NM_000603.5(NOS3):c.3562G>A (p.Ala1188Thr) single nucleotide variant not specified [RCV004830095] Chr7:151014119 [GRCh38]
Chr7:150711207 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2890A>C (p.Thr964Pro) single nucleotide variant not specified [RCV004830104] Chr7:151010801 [GRCh38]
Chr7:150707889 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.3146G>T (p.Arg1049Leu) single nucleotide variant not specified [RCV004830109] Chr7:151013270 [GRCh38]
Chr7:150710358 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.3557G>A (p.Arg1186Gln) single nucleotide variant not specified [RCV004830093] Chr7:151014114 [GRCh38]
Chr7:150711202 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.828G>C (p.Gln276His) single nucleotide variant not specified [RCV004830098] Chr7:150998957 [GRCh38]
Chr7:150696045 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1465G>A (p.Gly489Ser) single nucleotide variant not specified [RCV004830103] Chr7:151001580 [GRCh38]
Chr7:150698668 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.560G>A (p.Arg187Gln) single nucleotide variant not specified [RCV004830112] Chr7:150996903 [GRCh38]
Chr7:150693991 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1871C>T (p.Ser624Phe) single nucleotide variant not specified [RCV004830100] Chr7:151006939 [GRCh38]
Chr7:150704027 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.423C>A (p.Ser141Arg) single nucleotide variant not specified [RCV004830106] Chr7:150996766 [GRCh38]
Chr7:150693854 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2912T>C (p.Leu971Pro) single nucleotide variant not specified [RCV004830107] Chr7:151010914 [GRCh38]
Chr7:150708002 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.475G>A (p.Ala159Thr) single nucleotide variant not specified [RCV004830113] Chr7:150996818 [GRCh38]
Chr7:150693906 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.181C>G (p.Gln61Glu) single nucleotide variant not specified [RCV004830115] Chr7:150995225 [GRCh38]
Chr7:150692313 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1358C>T (p.Ser453Leu) single nucleotide variant not specified [RCV004830094] Chr7:151001355 [GRCh38]
Chr7:150698443 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.452A>G (p.Gln151Arg) single nucleotide variant not specified [RCV004830097] Chr7:150996795 [GRCh38]
Chr7:150693883 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1589G>A (p.Arg530Gln) single nucleotide variant not specified [RCV004830101] Chr7:151001907 [GRCh38]
Chr7:150698995 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.193G>A (p.Gly65Arg) single nucleotide variant not specified [RCV004830105] Chr7:150995237 [GRCh38]
Chr7:150692325 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1886A>G (p.Lys629Arg) single nucleotide variant not specified [RCV004830111] Chr7:151006954 [GRCh38]
Chr7:150704042 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.749G>A (p.Arg250His) single nucleotide variant not specified [RCV004830114] Chr7:150998613 [GRCh38]
Chr7:150695701 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2207G>A (p.Arg736Gln) single nucleotide variant not specified [RCV005238514] Chr7:151009024 [GRCh38]
Chr7:150706112 [GRCh37]
Chr7:7q36.1		 likely benign
NM_000603.5(NOS3):c.2551C>T (p.Pro851Ser) single nucleotide variant not specified [RCV005238367] Chr7:151010153 [GRCh38]
Chr7:150707241 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.137T>G (p.Leu46Arg) single nucleotide variant not specified [RCV005377111] Chr7:150993940 [GRCh38]
Chr7:150691028 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.185C>T (p.Pro62Leu) single nucleotide variant not specified [RCV005377118] Chr7:150995229 [GRCh38]
Chr7:150692317 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.535C>A (p.Arg179Ser) single nucleotide variant not specified [RCV005383098] Chr7:150996878 [GRCh38]
Chr7:150693966 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.266A>G (p.Gln89Arg) single nucleotide variant not specified [RCV005377108] Chr7:150995310 [GRCh38]
Chr7:150692398 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1367T>G (p.Leu456Arg) single nucleotide variant not specified [RCV005377114] Chr7:151001364 [GRCh38]
Chr7:150698452 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1386G>C (p.Gln462His) single nucleotide variant not specified [RCV005377115] Chr7:151001383 [GRCh38]
Chr7:150698471 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.107C>T (p.Pro36Leu) single nucleotide variant not specified [RCV005377116] Chr7:150993910 [GRCh38]
Chr7:150690998 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.554T>C (p.Val185Ala) single nucleotide variant not specified [RCV005377109] Chr7:150996897 [GRCh38]
Chr7:150693985 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.763C>T (p.Arg255Trp) single nucleotide variant not specified [RCV005377105] Chr7:150998627 [GRCh38]
Chr7:150695715 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.118C>T (p.Arg40Trp) single nucleotide variant not specified [RCV005377107] Chr7:150993921 [GRCh38]
Chr7:150691009 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1660G>A (p.Asp554Asn) single nucleotide variant not specified [RCV005377119] Chr7:151002212 [GRCh38]
Chr7:150699300 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1148T>C (p.Met383Thr) single nucleotide variant not specified [RCV005377106] Chr7:151000514 [GRCh38]
Chr7:150697602 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.113C>G (p.Pro38Arg) single nucleotide variant not specified [RCV005377104] Chr7:150993916 [GRCh38]
Chr7:150691004 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2746G>A (p.Glu916Lys) single nucleotide variant not specified [RCV005383097] Chr7:151010657 [GRCh38]
Chr7:150707745 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.293G>A (p.Arg98His) single nucleotide variant not specified [RCV005383096] Chr7:150996426 [GRCh38]
Chr7:150693514 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.3319G>A (p.Glu1107Lys) single nucleotide variant not specified [RCV005377110] Chr7:151013787 [GRCh38]
Chr7:150710875 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.3562G>T (p.Ala1188Ser) single nucleotide variant not specified [RCV005377112] Chr7:151014119 [GRCh38]
Chr7:150711207 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.2026G>A (p.Gly676Arg) single nucleotide variant not specified [RCV005377113] Chr7:151007190 [GRCh38]
Chr7:150704278 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_000603.5(NOS3):c.1921G>T (p.Ala641Ser) single nucleotide variant not specified [RCV005377117] Chr7:151006989 [GRCh38]
Chr7:150704077 [GRCh37]
Chr7:7q36.1		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR155hsa-miR-155-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI23108656

Predicted Target Of
Summary Value
Count of predictions:3001
Count of miRNA genes:917
Interacting mature miRNAs:1107
Transcripts:ENST00000297494, ENST00000460603, ENST00000461406, ENST00000467517, ENST00000468293, ENST00000473057, ENST00000475017, ENST00000475454, ENST00000477227, ENST00000484524
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597596063GWAS1652923_Hdiastolic blood pressure change measurement QTL GWAS1652923 (human)6e-27diastolic blood pressure change measurement7150993088150993089Human
597118870GWAS1214944_Happendicular lean mass QTL GWAS1214944 (human)2e-27appendicular lean mass7150993088150993089Human
597019536GWAS1115610_Hsmoking status measurement, diastolic blood pressure QTL GWAS1115610 (human)4e-33arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7150993088150993089Human
597591451GWAS1648311_Hcoronary atherosclerosis QTL GWAS1648311 (human)4e-16coronary atherosclerosis7150993088150993089Human
407011911GWAS660887_Hhypertension QTL GWAS660887 (human)3e-09hypertension7151007755151007756Human
628965242GWAS2873471_Hglomerular filtration rate QTL GWAS2873471 (human)4e-28glomerular filtration rate7150993088150993089Human
628937590GWAS2845819_Hdiastolic blood pressure QTL GWAS2845819 (human)3e-31arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7151007755151007756Human
597582224GWAS1639084_Hdiastolic blood pressure QTL GWAS1639084 (human)1e-16diastolic blood pressure7150993088150993089Human
597085081GWAS1181155_Hmean platelet volume QTL GWAS1181155 (human)1e-10coronary artery disease7150993088150993089Human
597596558GWAS1653418_Hcreatinine measurement QTL GWAS1653418 (human)3e-24creatinine measurement7150993088150993089Human
616520879GWAS1917462_Hserum creatinine amount QTL GWAS1917462 (human)6e-13serum creatinine amount7150993088150993089Human
597075334GWAS1171408_Hmean arterial pressure QTL GWAS1171408 (human)2e-08arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)7151007755151007756Human
628970859GWAS2879088_Hdiastolic blood pressure QTL GWAS2879088 (human)1e-35arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7150993088150993089Human
598036412GWAS1755711_Hglomerular filtration rate QTL GWAS1755711 (human)0.000001glomerular filtration rate7150993088150993089Human
597813178GWAS1680569_Hsystolic blood pressure QTL GWAS1680569 (human)9e-14systolic blood pressure7150993088150993089Human
407037021GWAS685997_Hdiastolic blood pressure QTL GWAS685997 (human)2e-13myocardial infarction7150993088150993089Human
407311448GWAS960424_HCalcium channel blocker use measurement QTL GWAS960424 (human)4e-26Calcium channel blocker use measurement7150993088150993089Human
597207431GWAS1303505_Hstroke QTL GWAS1303505 (human)2e-08brain integrity trait (VT:0010579)7150999023150999024Human
597581758GWAS1638618_Hdiastolic blood pressure QTL GWAS1638618 (human)2e-28diastolic blood pressure7150993088150993089Human
597199800GWAS1295874_Hdiastolic blood pressure QTL GWAS1295874 (human)3e-20diastolic blood pressure7151007755151007756Human
597581759GWAS1638619_Hdiastolic blood pressure QTL GWAS1638619 (human)3e-20diastolic blood pressure7151007755151007756Human
597595580GWAS1652440_Hdrug use measurement, coronary artery disease QTL GWAS1652440 (human)1e-11drug use measurement, coronary artery disease7150993088150993089Human
628813150GWAS2721379_Hmean arterial pressure QTL GWAS2721379 (human)1e-08arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)7151006154151006155Human
597199294GWAS1295368_Hdiastolic blood pressure QTL GWAS1295368 (human)1e-16diastolic blood pressure7150993088150993089Human
598043021GWAS1762320_Hserum creatinine amount QTL GWAS1762320 (human)2e-25serum creatinine amount7150993088150993089Human
628967252GWAS2875481_Hserum creatinine amount QTL GWAS2875481 (human)3e-24serum creatinine amount7150993088150993089Human
597199799GWAS1295873_Hdiastolic blood pressure QTL GWAS1295873 (human)2e-28diastolic blood pressure7150993088150993089Human
407269493GWAS918469_Hcoronary artery disease QTL GWAS918469 (human)2e-10coronary artery disease7150993088150993089Human
598017942GWAS1737241_Hplatelet volume QTL GWAS1737241 (human)1e-10coronary artery integrity trait (VT:0010746)7150993088150993089Human
628492098GWAS2400327_HCalcium channel blocker use measurement QTL GWAS2400327 (human)4e-26essential hypertension7150993088150993089Human
597425070GWAS1521144_Hsystolic blood pressure QTL GWAS1521144 (human)1e-25systolic blood pressure7151007755151007756Human
597425069GWAS1521143_Hsystolic blood pressure QTL GWAS1521143 (human)1e-31systolic blood pressure7150993088150993089Human
597103009GWAS1199083_Hmyocardial infarction QTL GWAS1199083 (human)4e-09heart integrity trait (VT:0010757)7150993088150993089Human
597350317GWAS1446391_Hlean body mass QTL GWAS1446391 (human)2e-14lean body mass7151011001151011002Human
628381512GWAS2301736_Hplatelet volume QTL GWAS2301736 (human)1e-11coronary artery integrity trait (VT:0010746)7150993088150993089Human
597456801GWAS1552875_Hdiastolic blood pressure QTL GWAS1552875 (human)3e-70diastolic blood pressure7150993088150993089Human
407016575GWAS665551_Hbody height QTL GWAS665551 (human)1e-18body height7151010400151010401Human
597456802GWAS1552876_Hdiastolic blood pressure QTL GWAS1552876 (human)7e-40diastolic blood pressure7151007755151007756Human
628970814GWAS2879043_Hdiastolic blood pressure change measurement QTL GWAS2879043 (human)6e-27arterial blood pressure trait (VT:2000000)change in diastolic blood pressure (CMO:0001016)7150993088150993089Human
407072263GWAS721239_Hbody mass index QTL GWAS721239 (human)3e-08body mass index7150998107150998108Human
597207504GWAS1303578_HDiuretic use measurement QTL GWAS1303578 (human)7e-29Diuretic use measurement7150993088150993089Human
597050332GWAS1146406_HEczematoid dermatitis QTL GWAS1146406 (human)4e-14Eczematoid dermatitis7150993088150993089Human
598042601GWAS1761900_Hglomerular filtration rate QTL GWAS1761900 (human)4e-28glomerular filtration rate7150993088150993089Human
597208533GWAS1304607_HAgents acting on the renin-angiotensin system use measurement QTL GWAS1304607 (human)2e-37Agents acting on the renin-angiotensin system use measurement7150993088150993089Human
597618640GWAS1675500_Hheart disease QTL GWAS1675500 (human)5e-12heart disease7150993088150993089Human
628622646GWAS2530875_Hcardiovascular disease QTL GWAS2530875 (human)2e-49cardiovascular disease7150993088150993089Human
407380487GWAS1029463_HAntihypertensive use measurement QTL GWAS1029463 (human)3e-66Antihypertensive use measurement7150993088150993089Human
407214108GWAS863084_Hright ventricular diastolic volume measurement QTL GWAS863084 (human)2e-08right ventricular diastolic volume measurement7150993088150993089Human
628800800GWAS2709029_Hright ventricular stroke volume measurement QTL GWAS2709029 (human)6e-09right ventricular stroke volume measurement7150993088150993089Human
597066186GWAS1162260_Hdiastolic blood pressure QTL GWAS1162260 (human)2e-13heart integrity trait (VT:0010757)systolic blood pressure (CMO:0000004)7150993088150993089Human
407314458GWAS963434_HHMG CoA reductase inhibitor use measurement QTL GWAS963434 (human)7e-11HMG CoA reductase inhibitor use measurement7150993088150993089Human
596977608GWAS1097127_Hbody height QTL GWAS1097127 (human)9e-27body height7150993088150993089Human
597310405GWAS1406479_Hglomerular filtration rate QTL GWAS1406479 (human)6e-21glomerular filtration rate7150993088150993089Human
628694809GWAS2603038_Hsystolic blood pressure QTL GWAS2603038 (human)1e-24arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7151007755151007756Human
598043076GWAS1762375_Hserum creatinine amount QTL GWAS1762375 (human)2e-29serum creatinine amount7150993088150993089Human
1578618SCL127_HSerum cholesterol level QTL 127 (human)3.7Lipid leveltriglyceride7141776251159345973Human
628835096GWAS2743325_Hserum creatinine amount QTL GWAS2743325 (human)6e-13serum creatinine amount7150993088150993089Human
407214113GWAS863089_Hright ventricular stroke volume measurement QTL GWAS863089 (human)6e-09right ventricular stroke volume measurement7150993088150993089Human
628965147GWAS2873376_Hglomerular filtration rate QTL GWAS2873376 (human)1e-24glomerular filtration rate7150993088150993089Human
617121440GWAS2138939_Hsystolic blood pressure QTL GWAS2138939 (human)7e-14systolic blood pressure7151007755151007756Human
1578610SCL128_HSerum cholesterol level QTL 128 (human)2.2Lipid levelLDL cholesterol7141776251159345973Human
406987310GWAS636286_Hstroke QTL GWAS636286 (human)2e-08stroke7150999023150999024Human
597073403GWAS1169477_Hcoronary artery disease QTL GWAS1169477 (human)3e-21coronary artery disease7150993088150993089Human
597112807GWAS1208881_Hdiastolic blood pressure QTL GWAS1208881 (human)0.000001arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7151007755151007756Human
597285356GWAS1381430_Hmean arterial pressure QTL GWAS1381430 (human)1e-08mean arterial pressure7151006154151006155Human
597019629GWAS1115703_Hsmoking status measurement, systolic blood pressure QTL GWAS1115703 (human)2e-12coronary artery integrity trait (VT:0010746)systolic blood pressure (CMO:0000004)7150993088150993089Human
597317089GWAS1413163_Hdiastolic blood pressure QTL GWAS1413163 (human)3e-45diastolic blood pressure7150993088150993089Human
628988409GWAS2896638_Hheart disease QTL GWAS2896638 (human)5e-12heart integrity trait (VT:0010757)7150993088150993089Human
597110034GWAS1206108_HCalcium channel blocker use measurement QTL GWAS1206108 (human)4e-26Calcium channel blocker use measurement7150993088150993089Human
628683262GWAS2591491_Hdiastolic blood pressure QTL GWAS2591491 (human)3e-45arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7150993088150993089Human
626462672GWAS2276605_Hbody height QTL GWAS2276605 (human)1e-39body height7150993088150993089Human
616550454GWAS1947037_Hbody height QTL GWAS1947037 (human)1e-25body height7150993088150993089Human
626463197GWAS2277130_Hsystolic blood pressure QTL GWAS2277130 (human)2e-27systolic blood pressure7151007755151007756Human
407313100GWAS962076_HDiuretic use measurement QTL GWAS962076 (human)7e-29Diuretic use measurement7150993088150993089Human
407396548GWAS1045524_Hcoronary artery disease QTL GWAS1045524 (human)5e-32coronary artery disease7150993088150993089Human
597587729GWAS1644589_Hglomerular filtration rate QTL GWAS1644589 (human)4e-17glomerular filtration rate7150993088150993089Human
628804085GWAS2712314_Hsystolic blood pressure QTL GWAS2712314 (human)1e-08arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7151007755151007756Human
597047559GWAS1143633_Hmetabolic syndrome QTL GWAS1143633 (human)4e-13metabolic syndrome7150998107150998108Human
407353043GWAS1002019_Hdiastolic blood pressure QTL GWAS1002019 (human)1e-20diastolic blood pressure7151007755151007756Human
597983537GWAS1702836_Hplatelet volume QTL GWAS1702836 (human)6e-16platelet volume7150993088150993089Human
597826869GWAS1694260_Hcoronary artery disease QTL GWAS1694260 (human)1e-10coronary artery disease7150993088150993089Human
597582086GWAS1638946_Hsystolic blood pressure QTL GWAS1638946 (human)4e-12systolic blood pressure7151007755151007756Human
628983780GWAS2892009_Hbody height QTL GWAS2892009 (human)1e-39body height7150993088150993089Human
407373526GWAS1022502_Happendicular lean mass QTL GWAS1022502 (human)2e-27appendicular lean mass7150993088150993089Human
628832741GWAS2740970_Hcoronary artery disease, factor VII measurement QTL GWAS2740970 (human)2e-16blood coagulation trait (VT:0002551)7150993088150993089Human
597076745GWAS1172819_Hhypertension QTL GWAS1172819 (human)3e-09blood pressure trait (VT:0000183)7151007755151007756Human
597036343GWAS1132417_Hbody height QTL GWAS1132417 (human)1e-32body height7150993088150993089Human
1559221SCL67_HSerum cholesterol level QTL 67 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
628974046GWAS2882275_Hhypertension QTL GWAS2882275 (human)2e-33blood pressure trait (VT:0000183)7150993088150993089Human
407151840GWAS800816_Hmyocardial infarction QTL GWAS800816 (human)4e-09myocardial infarction7150993088150993089Human
628899288GWAS2807517_Hdiastolic blood pressure QTL GWAS2807517 (human)6e-13arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7151007162151007163Human
1559218SCL69_HSerum cholesterol level QTL 69 (human)3.410.002Lipid leveltriglyceride7141776251159345973Human
628710364GWAS2618593_Hcoronary artery disease QTL GWAS2618593 (human)5e-32coronary artery integrity trait (VT:0010746)7150993088150993089Human
598080258GWAS1799557_Hserum creatinine amount QTL GWAS1799557 (human)1e-18serum creatinine amount7150993088150993089Human
628687326GWAS2595555_Hsystolic blood pressure QTL GWAS2595555 (human)4e-19arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7151007755151007756Human
598036236GWAS1755535_Hglomerular filtration rate QTL GWAS1755535 (human)6e-21glomerular filtration rate7150993088150993089Human
617198179GWAS2178619_Hlevel of nitric oxide synthase, endothelial in blood QTL GWAS2178619 (human)1e-13level of nitric oxide synthase, endothelial in blood7150992309150992310Human
597814538GWAS1681929_Hfactor VIII measurement, coronary artery disease QTL GWAS1681929 (human)2e-16factor XI measurement, coronary artery disease7150993088150993089Human
597594418GWAS1651278_Hhypertension, Antihypertensive use measurement QTL GWAS1651278 (human)7e-26hypertension, Antihypertensive use measurement7150993088150993089Human
406888173GWAS537149_Hsmoking status measurement, systolic blood pressure QTL GWAS537149 (human)2e-12coronary artery disease7150993088150993089Human
407081710GWAS730686_Hbody height QTL GWAS730686 (human)1e-32body height7150993088150993089Human
597102906GWAS1198980_Hmyocardial infarction QTL GWAS1198980 (human)4e-13heart integrity trait (VT:0010757)7150993088150993089Human
597322551GWAS1418625_Hsystolic blood pressure QTL GWAS1418625 (human)1e-24systolic blood pressure7151007755151007756Human
597026619GWAS1122693_Hsystolic blood pressure, alcohol drinking QTL GWAS1122693 (human)2e-14drinking behavior trait (VT:0001422)systolic blood pressure (CMO:0000004)7150993088150993089Human
628690889GWAS2599118_Hcardiovascular disease QTL GWAS2599118 (human)3e-12cardiovascular disease7150993088150993089Human
598031639GWAS1750938_Hbody height QTL GWAS1750938 (human)9e-27body height7150993088150993089Human
597618476GWAS1675336_Hessential hypertension QTL GWAS1675336 (human)5e-21essential hypertension7151007755151007756Human
597589805GWAS1646665_Hhypertension QTL GWAS1646665 (human)7e-27hypertension7150993088150993089Human
597036832GWAS1132906_Hdiastolic blood pressure, alcohol drinking QTL GWAS1132906 (human)4e-31diastolic blood pressure, alcohol drinking7150993088150993089Human
628499904GWAS2408133_Happendicular lean mass QTL GWAS2408133 (human)2e-27body lean mass (VT:0010483)7150993088150993089Human
598083358GWAS1802657_Hglomerular filtration rate QTL GWAS1802657 (human)4e-17glomerular filtration rate7150993088150993089Human
1559213SCL71_HSerum cholesterol level QTL 71 (human)3.46Lipid leveltriglyceride7141776251159345973Human
628719555GWAS2627784_Hglomerular filtration rate QTL GWAS2627784 (human)0.000001glomerular filtration rate7150993088150993089Human
616518661GWAS1915244_Hdiastolic blood pressure QTL GWAS1915244 (human)7e-19diastolic blood pressure7151007755151007756Human
407395571GWAS1044547_Hglomerular filtration rate QTL GWAS1044547 (human)6e-21glomerular filtration rate7150993088150993089Human
628754369GWAS2662598_Hheart shape trait QTL GWAS2662598 (human)2e-08heart shape trait7150993088150993089Human
596968744GWAS1088263_Hsystolic blood pressure QTL GWAS1088263 (human)1e-24systolic blood pressure7151007755151007756Human
597586721GWAS1643581_Hglomerular filtration rate QTL GWAS1643581 (human)2e-17glomerular filtration rate7150993088150993089Human
597283673GWAS1379747_Hdiastolic blood pressure QTL GWAS1379747 (human)1e-20diastolic blood pressure7151007755151007756Human
597587802GWAS1644662_Hglomerular filtration rate QTL GWAS1644662 (human)6e-20glomerular filtration rate7150993088150993089Human
628445617GWAS2353846_HEczematoid dermatitis, allergic rhinitis QTL GWAS2353846 (human)6e-10platelet size trait (VT:0010457)platelet distribution width (CMO:0001350)7150993088150993089Human
597311326GWAS1407400_Hsystolic blood pressure QTL GWAS1407400 (human)4e-19systolic blood pressure7151007755151007756Human
597581659GWAS1638519_Hhypertension, Antihypertensive use measurement QTL GWAS1638519 (human)6e-18blood pressure trait (VT:0000183)7150993088150993089Human
628835261GWAS2743490_Hdiastolic blood pressure QTL GWAS2743490 (human)1e-20arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7151007755151007756Human
628969914GWAS2878143_Hserum creatinine amount QTL GWAS2878143 (human)2e-25serum creatinine amount7150993088150993089Human
1559263SCL72_HSerum cholesterol level QTL 72 (human)3.25Lipid leveltriglyceride7141776251159345973Human
597586259GWAS1643119_Hcreatinine measurement QTL GWAS1643119 (human)1e-18creatinine measurement7150993088150993089Human
598081384GWAS1800683_Hglomerular filtration rate QTL GWAS1800683 (human)2e-17glomerular filtration rate7150993088150993089Human
626466202GWAS2280135_Hdiastolic blood pressure QTL GWAS2280135 (human)3e-31diastolic blood pressure7151007755151007756Human
628986288GWAS2894517_Hhypertension QTL GWAS2894517 (human)3e-21blood pressure trait (VT:0000183)7151007755151007756Human
597348683GWAS1444757_Hcoronary artery disease QTL GWAS1444757 (human)2e-10coronary artery disease7150993088150993089Human
1559237SCL70_HSerum cholesterol level QTL 70 (human)3.520.002Lipid leveltriglyceride7141776251159345973Human
1559232SCL66_HSerum cholesterol level QTL 66 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
597290306GWAS1386380_Hhypertension QTL GWAS1386380 (human)2e-39hypertension7150993088150993089Human
628818854GWAS2727083_Hglomerular filtration rate QTL GWAS2727083 (human)2e-18glomerular filtration rate7150993088150993089Human
597073782GWAS1169856_Hcoronary artery disease QTL GWAS1169856 (human)1e-20coronary artery disease7150993088150993089Human
628506004GWAS2414233_Hsystolic blood pressure QTL GWAS2414233 (human)5e-28arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7151007755151007756Human
616565796GWAS1962379_Hlevel of nitric oxide synthase, endothelial in blood serum QTL GWAS1962379 (human)1e-13level of nitric oxide synthase, endothelial in blood serum7150992309150992310Human
628506003GWAS2414232_Hsystolic blood pressure QTL GWAS2414232 (human)9e-34arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7150993088150993089Human
628686749GWAS2594978_Hbody height QTL GWAS2594978 (human)1e-25body height7150993088150993089Human
407316641GWAS965617_HAgents acting on the renin-angiotensin system use measurement QTL GWAS965617 (human)2e-37Agents acting on the renin-angiotensin system use measurement7150993088150993089Human
597619061GWAS1675921_Hhypertension QTL GWAS1675921 (human)3e-21hypertension7151007755151007756Human
407389348GWAS1038324_Hdiastolic blood pressure QTL GWAS1038324 (human)2e-28diastolic blood pressure7150993088150993089Human
407389349GWAS1038325_Hdiastolic blood pressure QTL GWAS1038325 (human)3e-20diastolic blood pressure7151007755151007756Human
597596014GWAS1652874_Hglomerular filtration rate QTL GWAS1652874 (human)1e-20glomerular filtration rate7150993088150993089Human
628854665GWAS2762894_HAntihypertensive use measurement QTL GWAS2762894 (human)3e-66Antihypertensive use measurement7150993088150993089Human
628690314GWAS2598543_Hmyocardial infarction QTL GWAS2598543 (human)3e-08heart integrity trait (VT:0010757)7150993088150993089Human
628519298GWAS2427527_Hcoronary artery disease QTL GWAS2427527 (human)2e-10coronary artery integrity trait (VT:0010746)7150993088150993089Human
1559264SCL68_HSerum cholesterol level QTL 68 (human)3.10.002Lipid leveltriglyceride7141776251159345973Human
407071418GWAS720394_Hdiastolic blood pressure, alcohol drinking QTL GWAS720394 (human)4e-31diastolic blood pressure, alcohol drinking7150993088150993089Human
628478345GWAS2386574_Hcoronary artery disease QTL GWAS2386574 (human)1e-20coronary artery integrity trait (VT:0010746)7150993088150993089Human
628512136GWAS2420365_Hdiastolic blood pressure QTL GWAS2420365 (human)2e-28arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7150993088150993089Human
628512137GWAS2420366_Hdiastolic blood pressure QTL GWAS2420366 (human)3e-20arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7151007755151007756Human
407174470GWAS823446_Hmean platelet volume QTL GWAS823446 (human)6e-16mean platelet volume7150993088150993089Human
407068992GWAS717968_Hglomerular filtration rate QTL GWAS717968 (human)0.0000004glomerular filtration rate7150993088150993089Human
597075093GWAS1171167_Hdiastolic blood pressure QTL GWAS1171167 (human)2e-16arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7151007755151007756Human
407324482GWAS973458_Hdiastolic blood pressure QTL GWAS973458 (human)6e-13diastolic blood pressure7151007162151007163Human
628735103GWAS2643332_Hsystolic blood pressure QTL GWAS2643332 (human)1e-25arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7151007755151007756Human
597595801GWAS1652661_Hcreatinine measurement QTL GWAS1652661 (human)2e-29creatinine measurement7150993088150993089Human
628735102GWAS2643331_Hsystolic blood pressure QTL GWAS2643331 (human)1e-31arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7150993088150993089Human
406892875GWAS541851_Hsmoking status measurement, diastolic blood pressure QTL GWAS541851 (human)4e-33smoking status measurement, diastolic blood pressure7150993088150993089Human
628880502GWAS2788731_Hbody height QTL GWAS2788731 (human)2e-10body height7151002789151002790Human
628880501GWAS2788730_Hbody height QTL GWAS2788730 (human)4e-31body height7150992855150992856Human
617136583GWAS2154082_Hlevel of nitric oxide synthase, endothelial in blood serum QTL GWAS2154082 (human)1e-13level of nitric oxide synthase, endothelial in blood serum7150992309150992310Human
407262039GWAS911015_Hbirth weight, parental genotype effect measurement QTL GWAS911015 (human)9e-12birth weight, parental genotype effect measurement7150993088150993089Human
406900564GWAS549540_Hdiastolic blood pressure QTL GWAS549540 (human)4e-23arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7150993088150993089Human
628720237GWAS2628466_Hglomerular filtration rate QTL GWAS2628466 (human)6e-21glomerular filtration rate7150993088150993089Human
407252318GWAS901294_Hdiastolic blood pressure QTL GWAS901294 (human)1e-16diastolic blood pressure7150993088150993089Human
597595270GWAS1652130_Hcoronary artery disease QTL GWAS1652130 (human)1e-12coronary artery disease7150993088150993089Human
597586052GWAS1642912_Hcreatinine measurement QTL GWAS1642912 (human)3e-17creatinine measurement7150993088150993089Human
596977807GWAS1097326_Hhypertension QTL GWAS1097326 (human)1e-10hypertension7151007755151007756Human
597286018GWAS1382092_Hdiastolic blood pressure QTL GWAS1382092 (human)2e-08diastolic blood pressure7151006154151006155Human
407319385GWAS968361_Hmean platelet volume QTL GWAS968361 (human)1e-10mean platelet volume7150993088150993089Human
596966068GWAS1085587_Hdiastolic blood pressure QTL GWAS1085587 (human)3e-45diastolic blood pressure7150993088150993089Human
597206712GWAS1302786_HBeta blocking agent use measurement QTL GWAS1302786 (human)8e-21Beta blocking agent use measurement7150993088150993089Human
407392617GWAS1041593_Hfibrinogen measurement, coronary artery disease QTL GWAS1041593 (human)8e-17fibrinogen measurement, coronary artery disease7150993088150993089Human
597200062GWAS1296136_Hsystolic blood pressure QTL GWAS1296136 (human)4e-12systolic blood pressure7151007755151007756Human
596967091GWAS1086610_Hsystolic blood pressure QTL GWAS1086610 (human)2e-19systolic blood pressure7150993088150993089Human
407207778GWAS856754_Hsystolic blood pressure QTL GWAS856754 (human)1e-08systolic blood pressure7151007755151007756Human
597057214GWAS1153288_HEczematoid dermatitis, allergic rhinitis QTL GWAS1153288 (human)6e-10platelet component distribution width7150993088150993089Human
597134015GWAS1230089_Hdiastolic blood pressure QTL GWAS1230089 (human)2e-46arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7151007755151007756Human
407300462GWAS949438_Hlean body mass QTL GWAS949438 (human)2e-14lean body mass7151011001151011002Human
597134014GWAS1230088_Hdiastolic blood pressure QTL GWAS1230088 (human)1e-81arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7150993088150993089Human
598091405GWAS1810704_Hglomerular filtration rate QTL GWAS1810704 (human)2e-18glomerular filtration rate7150993088150993089Human
628837456GWAS2745685_Hdiastolic blood pressure QTL GWAS2745685 (human)7e-19arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7151007755151007756Human
628527706GWAS2435935_Hmean arterial pressure QTL GWAS2435935 (human)3e-22arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)7151007755151007756Human
597594286GWAS1651146_Hhypertension QTL GWAS1651146 (human)2e-33hypertension7150993088150993089Human
597147813GWAS1243887_Hright ventricular diastolic volume measurement QTL GWAS1243887 (human)2e-08cardiovascular measurement7150993088150993089Human
628811855GWAS2720084_Hdiastolic blood pressure QTL GWAS2720084 (human)2e-08arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7151006154151006155Human
628974660GWAS2882889_Hcoronary artery disease QTL GWAS2882889 (human)1e-12coronary artery integrity trait (VT:0010746)7150993088150993089Human
597984415GWAS1703714_Hplatelet volume QTL GWAS1703714 (human)9e-14arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7150993088150993089Human
597201059GWAS1297133_Hbody height QTL GWAS1297133 (human)1e-18body height7151010400151010401Human
597192870GWAS1288944_Hsystolic blood pressure QTL GWAS1288944 (human)9e-34systolic blood pressure7150993088150993089Human
628964931GWAS2873160_Hserum creatinine amount QTL GWAS2873160 (human)2e-29serum creatinine amount7150993088150993089Human
597192871GWAS1288945_Hsystolic blood pressure QTL GWAS1288945 (human)5e-28systolic blood pressure7151007755151007756Human
407025410GWAS674386_Hcoronary artery disease QTL GWAS674386 (human)3e-21coronary artery disease7150993088150993089Human
598058212GWAS1777511_Hbody height QTL GWAS1777511 (human)1e-18body height7151010400151010401Human
628696624GWAS2604853_Hsystolic blood pressure QTL GWAS2604853 (human)7e-14arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7151007755151007756Human
407399683GWAS1048659_Hsystolic blood pressure QTL GWAS1048659 (human)4e-19systolic blood pressure7151007755151007756Human
628961841GWAS2870070_Hheart disease QTL GWAS2870070 (human)5e-17arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7150993088150993089Human
628754998GWAS2663227_Hheart failure QTL GWAS2663227 (human)2e-09heart integrity trait (VT:0010757)7151007755151007756Human
596954329GWAS1073848_Hhypertension QTL GWAS1073848 (human)2e-39hypertension7150993088150993089Human
597602512GWAS1659372_Hhypertension QTL GWAS1659372 (human)2e-22blood pressure trait (VT:0000183)7151007755151007756Human
628952115GWAS2860344_Hsystolic blood pressure QTL GWAS2860344 (human)2e-27arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7151007755151007756Human
597075142GWAS1171216_Hsystolic blood pressure QTL GWAS1171216 (human)5e-12arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7151007755151007756Human
628964396GWAS2872625_Hcoronary atherosclerosis QTL GWAS2872625 (human)4e-16coronary atherosclerosis7150993088150993089Human
406994198GWAS643174_HEczematoid dermatitis, allergic rhinitis QTL GWAS643174 (human)6e-10platelet component distribution width7150993088150993089Human
628438049GWAS2346278_Hmetabolic syndrome QTL GWAS2346278 (human)4e-13metabolic syndrome7150998107150998108Human
597162690GWAS1258764_Hmyocardial infarction QTL GWAS1258764 (human)3e-10myocardial infarction7150993088150993089Human
597305539GWAS1401613_Hcoronary artery disease QTL GWAS1401613 (human)5e-32coronary artery disease7150993088150993089Human
596957389GWAS1076908_Hmetabolic syndrome QTL GWAS1076908 (human)4e-13metabolic syndrome7150998107150998108Human
628876839GWAS2785068_Hbody mass index QTL GWAS2785068 (human)3e-08body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)7150998107150998108Human
598156487GWAS1835557_Hheart failure QTL GWAS1835557 (human)2e-09heart failure7151007755151007756Human
628691482GWAS2599711_Hangina pectoris QTL GWAS2599711 (human)5e-08heart integrity trait (VT:0010757)7150993088150993089Human
628514833GWAS2423062_Hdiastolic blood pressure QTL GWAS2423062 (human)1e-16arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7150993088150993089Human
597992140GWAS1711439_Hglomerular filtration rate QTL GWAS1711439 (human)0.0000004glomerular filtration rate7150993088150993089Human
628692497GWAS2600726_Hhypertension QTL GWAS2600726 (human)1e-10blood pressure trait (VT:0000183)7151007755151007756Human
597192947GWAS1289021_Hbody mass index QTL GWAS1289021 (human)3e-08body mass index7150998107150998108Human
628493338GWAS2401567_HHMG CoA reductase inhibitor use measurement QTL GWAS2401567 (human)7e-11HMG CoA reductase inhibitor use measurement7150993088150993089Human
598042838GWAS1762137_Hserum creatinine amount QTL GWAS1762137 (human)3e-24serum creatinine amount7150993088150993089Human
598080208GWAS1799507_Hplatelet volume QTL GWAS1799507 (human)1e-13platelet volume7150993088150993089Human
407009079GWAS658055_Hsystolic blood pressure QTL GWAS658055 (human)5e-12systolic blood pressure7151007755151007756Human
597108448GWAS1204522_HHMG CoA reductase inhibitor use measurement QTL GWAS1204522 (human)7e-11HMG CoA reductase inhibitor use measurement7150993088150993089Human
597082350GWAS1178424_Hmean platelet volume QTL GWAS1178424 (human)9e-14mean platelet volume7150993088150993089Human
628493326GWAS2401555_HDiuretic use measurement QTL GWAS2401555 (human)7e-29Diuretic use measurement7150993088150993089Human
597595879GWAS1652739_Hdiastolic blood pressure QTL GWAS1652739 (human)1e-35diastolic blood pressure7150993088150993089Human
407393587GWAS1042563_Hmyocardial infarction QTL GWAS1042563 (human)3e-10myocardial infarction7150993088150993089Human
597083885GWAS1179959_Hwhite matter hyperintensity measurement QTL GWAS1179959 (human)4e-08brain morphology trait (VT:0002152)7150999023150999024Human
407312186GWAS961162_HBeta blocking agent use measurement QTL GWAS961162 (human)8e-21Beta blocking agent use measurement7150993088150993089Human
597603555GWAS1660415_Hmean platelet volume QTL GWAS1660415 (human)1e-13mean platelet volume7150993088150993089Human
407415094GWAS1064070_Hsystolic blood pressure QTL GWAS1064070 (human)9e-34systolic blood pressure7150993088150993089Human
598035162GWAS1754461_Hglomerular filtration rate QTL GWAS1754461 (human)1e-09glomerular filtration rate7150993088150993089Human
407415095GWAS1064071_Hsystolic blood pressure QTL GWAS1064071 (human)5e-28systolic blood pressure7151007755151007756Human
598081574GWAS1800873_Hserum creatinine amount QTL GWAS1800873 (human)3e-17serum creatinine amount7150993088150993089Human
598043172GWAS1762471_Hglomerular filtration rate QTL GWAS1762471 (human)1e-24glomerular filtration rate7150993088150993089Human
407119814GWAS768790_HEczematoid dermatitis QTL GWAS768790 (human)4e-14Eczematoid dermatitis7150993088150993089Human
407389643GWAS1038619_Hsystolic blood pressure QTL GWAS1038619 (human)4e-12systolic blood pressure7151007755151007756Human
597316121GWAS1412195_Hdiastolic blood pressure QTL GWAS1412195 (human)1e-33diastolic blood pressure7151007755151007756Human
597822502GWAS1689893_Hcoronary artery disease QTL GWAS1689893 (human)8e-17coronary artery disease7150993088150993089Human
598001698GWAS1720997_Hbody height QTL GWAS1720997 (human)1e-32body height7150993088150993089Human
407146947GWAS795923_Hmyocardial infarction QTL GWAS795923 (human)4e-13myocardial infarction7150993088150993089Human
628478706GWAS2386935_Hcoronary artery disease QTL GWAS2386935 (human)3e-21coronary artery integrity trait (VT:0010746)7150993088150993089Human
625825482GWAS2246404_Hbody height QTL GWAS2246404 (human)2e-10body height7151002789151002790Human
628988149GWAS2896378_Hessential hypertension QTL GWAS2896378 (human)5e-21essential hypertension7151007755151007756Human
407396289GWAS1045265_Hglomerular filtration rate QTL GWAS1045265 (human)0.000001glomerular filtration rate7150993088150993089Human
407119311GWAS768287_Hcardiovascular disease QTL GWAS768287 (human)2e-49cardiovascular disease7150993088150993089Human
597288469GWAS1384543_Hmyocardial infarction QTL GWAS1384543 (human)3e-08myocardial infarction7150993088150993089Human
628834039GWAS2742268_Hcirculating fibrinogen levels, coronary artery disease QTL GWAS2742268 (human)8e-17coronary artery integrity trait (VT:0010746)7150993088150993089Human
616559410GWAS1955993_Hhypertension QTL GWAS1955993 (human)5e-52hypertension7150993088150993089Human
597596177GWAS1653037_Hglomerular filtration rate QTL GWAS1653037 (human)1e-24glomerular filtration rate7150993088150993089Human
628818159GWAS2726388_Hhypertension QTL GWAS2726388 (human)5e-52blood pressure trait (VT:0000183)7150993088150993089Human
597288961GWAS1385035_Hangina pectoris QTL GWAS1385035 (human)5e-08angina pectoris7150993088150993089Human
628962535GWAS2870764_Hcoronary artery disease QTL GWAS2870764 (human)3e-14coronary artery integrity trait (VT:0010746)7150993088150993089Human
407419347GWAS1068323_Hdiastolic blood pressure QTL GWAS1068323 (human)1e-81diastolic blood pressure7150993088150993089Human
407012318GWAS661294_Hdiastolic blood pressure QTL GWAS661294 (human)2e-16diastolic blood pressure7151007755151007756Human
407419348GWAS1068324_Hdiastolic blood pressure QTL GWAS1068324 (human)2e-46diastolic blood pressure7151007755151007756Human
625825488GWAS2246410_Hbody height QTL GWAS2246410 (human)4e-31body height7150992855150992856Human
407060446GWAS709422_Hsystolic blood pressure, alcohol drinking QTL GWAS709422 (human)2e-14systolic blood pressure, alcohol drinking7150993088150993089Human
596951563GWAS1071082_Hcoronary artery disease QTL GWAS1071082 (human)2e-12coronary artery disease7150993088150993089Human
407396328GWAS1045304_Hglomerular filtration rate QTL GWAS1045304 (human)1e-09glomerular filtration rate7150993088150993089Human
597160503GWAS1256577_Hvon Willebrand factor measurement, coronary artery disease QTL GWAS1256577 (human)2e-16factor XI measurement, coronary artery disease7150993088150993089Human
628745433GWAS2653662_Hhypertension QTL GWAS2653662 (human)2e-39blood pressure trait (VT:0000183)7150993088150993089Human
407009251GWAS658227_Hmean arterial pressure QTL GWAS658227 (human)2e-08mean arterial pressure7151007755151007756Human
597596219GWAS1653079_Hcreatinine measurement QTL GWAS1653079 (human)2e-25creatinine measurement7150993088150993089Human
597592120GWAS1648980_Hcoronary artery disease QTL GWAS1648980 (human)3e-14coronary artery disease7150993088150993089Human
597324348GWAS1420422_Hsystolic blood pressure QTL GWAS1420422 (human)2e-19systolic blood pressure7150993088150993089Human
597295676GWAS1391750_Hmean arterial pressure QTL GWAS1391750 (human)3e-22mean arterial pressure7151007755151007756Human
407027178GWAS676154_Hcoronary artery disease QTL GWAS676154 (human)1e-20coronary artery disease7150993088150993089Human
407174124GWAS823100_Hmean platelet volume QTL GWAS823100 (human)9e-14mean platelet volume7150993088150993089Human
617101664GWAS2119163_Hserum creatinine amount QTL GWAS2119163 (human)6e-13serum creatinine amount7150993088150993089Human
597146174GWAS1242248_HAntihypertensive use measurement QTL GWAS1242248 (human)3e-66Antihypertensive use measurement7150993088150993089Human
597591092GWAS1647952_Hessential hypertension QTL GWAS1647952 (human)4e-26essential hypertension7150993088150993089Human
597596725GWAS1653585_Hglomerular filtration rate QTL GWAS1653585 (human)4e-28glomerular filtration rate7150993088150993089Human
596964920GWAS1084439_Hcoronary artery disease QTL GWAS1084439 (human)2e-10coronary artery disease7150993088150993089Human
598036488GWAS1755787_Hcirculating fibrinogen levels, coronary artery disease QTL GWAS1755787 (human)8e-17circulating fibrinogen levels, coronary artery disease7150993088150993089Human
597285431GWAS1381505_Hcardiovascular disease QTL GWAS1381505 (human)3e-12cardiovascular disease7150993088150993089Human
407354344GWAS1003320_Hglomerular filtration rate QTL GWAS1003320 (human)2e-18glomerular filtration rate7150993088150993089Human
597149732GWAS1245806_Hsystolic blood pressure QTL GWAS1245806 (human)1e-08systolic blood pressure7151007755151007756Human
597081633GWAS1177707_Hmean platelet volume QTL GWAS1177707 (human)6e-16mean platelet volume7150993088150993089Human
597303341GWAS1399415_Hbody height QTL GWAS1399415 (human)9e-27body height7150993088150993089Human
597147680GWAS1243754_Hright ventricular stroke volume measurement QTL GWAS1243754 (human)6e-09right ventricular stroke volume measurement7150993088150993089Human
407391729GWAS1040705_Hfactor VIII measurement, coronary artery disease QTL GWAS1040705 (human)2e-16von Willebrand factor measurement, coronary artery disease7150993088150993089Human
628491468GWAS2399697_HAgents acting on the renin-angiotensin system use measurement QTL GWAS2399697 (human)2e-37Agents acting on the renin-angiotensin system use measurement7150993088150993089Human
628623544GWAS2531773_HEczematoid dermatitis QTL GWAS2531773 (human)4e-14Eczematoid dermatitis7150993088150993089Human
597608031GWAS1664891_Hsystolic blood pressure QTL GWAS1664891 (human)5e-17systolic blood pressure7150993088150993089Human
628716731GWAS2624960_Hglomerular filtration rate QTL GWAS2624960 (human)1e-09Raynaud disease7150993088150993089Human
628680890GWAS2589119_Hsystolic blood pressure QTL GWAS2589119 (human)2e-19arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7150993088150993089Human
628688059GWAS2596288_Hdiastolic blood pressure QTL GWAS2596288 (human)1e-33arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7151007755151007756Human
406947202GWAS596178_Hwhite matter hyperintensity measurement QTL GWAS596178 (human)4e-08white matter hyperintensity measurement7150999023150999024Human
628506291GWAS2414520_Hsystolic blood pressure QTL GWAS2414520 (human)4e-12arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7151007755151007756Human
628521136GWAS2429365_Hdiastolic blood pressure QTL GWAS2429365 (human)3e-70arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7150993088150993089Human
628962491GWAS2870720_Hhypertension QTL GWAS2870720 (human)7e-27blood pressure trait (VT:0000183)7150993088150993089Human
628521137GWAS2429366_Hdiastolic blood pressure QTL GWAS2429366 (human)7e-40arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7151007755151007756Human
597163611GWAS1259685_Hfibrinogen measurement, coronary artery disease QTL GWAS1259685 (human)8e-17fibrinogen measurement, coronary artery disease7150993088150993089Human
628628651GWAS2536880_Hsystolic blood pressure QTL GWAS2536880 (human)8e-25arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)7150993088150993089Human
406996374GWAS645350_Hsystolic blood pressure QTL GWAS645350 (human)8e-25systolic blood pressure7150993088150993089Human
628667564GWAS2575793_Hlean body mass QTL GWAS2575793 (human)2e-14body lean mass (VT:0010483)total body lean mass (CMO:0003950)7151011001151011002Human
596972098GWAS1091617_Hmean arterial pressure QTL GWAS1091617 (human)1e-08mean arterial pressure7151006154151006155Human
628617388GWAS2525617_Hdiastolic blood pressure, alcohol drinking QTL GWAS2525617 (human)4e-31drinking behavior trait (VT:0001422)diastolic blood pressure (CMO:0000005)7150993088150993089Human
597055563GWAS1151637_Hsystolic blood pressure QTL GWAS1151637 (human)8e-25systolic blood pressure7150993088150993089Human
628971680GWAS2879909_Hhypertension, Antihypertensive use measurement QTL GWAS2879909 (human)7e-26blood pressure trait (VT:0000183)7150993088150993089Human
597316734GWAS1412808_Hglomerular filtration rate QTL GWAS1412808 (human)0.000001glomerular filtration rate7150993088150993089Human
406897575GWAS546551_Hsystolic blood pressure QTL GWAS546551 (human)2e-09coronary artery integrity trait (VT:0010746)systolic blood pressure (CMO:0000004)7150993088150993089Human
597280894GWAS1376968_HRaynaud disease QTL GWAS1376968 (human)1e-09Raynaud disease7150993088150993089Human
628493982GWAS2402211_HBeta blocking agent use measurement QTL GWAS2402211 (human)8e-21Beta blocking agent use measurement7150993088150993089Human
597211249GWAS1307323_Hbirth weight, parental genotype effect measurement QTL GWAS1307323 (human)9e-12body mass (VT:0001259)neonatal body weight (CMO:0002079)7150993088150993089Human
407166376GWAS815352_Hdiastolic blood pressure QTL GWAS815352 (human)0.000001diastolic blood pressure7151007755151007756Human
407399332GWAS1048308_Hmean arterial pressure QTL GWAS1048308 (human)3e-22mean arterial pressure7151007755151007756Human
598082123GWAS1801422_Hglomerular filtration rate QTL GWAS1801422 (human)6e-20glomerular filtration rate7150993088150993089Human
628605082GWAS2513311_Hmyocardial infarction QTL GWAS2513311 (human)3e-10heart integrity trait (VT:0010757)7150993088150993089Human
596976229GWAS1095748_Hcardiovascular disease QTL GWAS1095748 (human)3e-12cardiovascular disease7150993088150993089Human
628946060GWAS2854289_Hbody height QTL GWAS2854289 (human)1e-18body height7151010400151010401Human
628831369GWAS2739598_Hbody height QTL GWAS2739598 (human)9e-27body height7150993088150993089Human
596966503GWAS1086022_Hdiastolic blood pressure QTL GWAS1086022 (human)1e-33diastolic blood pressure7151007755151007756Human
596975201GWAS1094720_Hmyocardial infarction QTL GWAS1094720 (human)3e-08myocardial infarction7150993088150993089Human
597587051GWAS1643911_Hdiastolic blood pressure QTL GWAS1643911 (human)1e-28arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)7150993088150993089Human
617095998GWAS2113497_Hhypertension QTL GWAS2113497 (human)5e-52hypertension7150993088150993089Human
597268590GWAS1364664_Hdiastolic blood pressure QTL GWAS1364664 (human)6e-13diastolic blood pressure7151007162151007163Human
597285998GWAS1382072_Hhypertension QTL GWAS1382072 (human)1e-10hypertension7151007755151007756Human
597302882GWAS1398956_Hglomerular filtration rate QTL GWAS1398956 (human)2e-18glomerular filtration rate7150993088150993089Human
597047919GWAS1143993_Hcardiovascular disease QTL GWAS1143993 (human)2e-49cardiovascular disease7150993088150993089Human
596971116GWAS1090635_Hdiastolic blood pressure QTL GWAS1090635 (human)2e-08diastolic blood pressure7151006154151006155Human
596979310GWAS1098829_Hangina pectoris QTL GWAS1098829 (human)5e-08angina pectoris7150993088150993089Human
597586021GWAS1642881_Hdiastolic blood pressure change measurement QTL GWAS1642881 (human)3e-20arterial blood pressure trait (VT:2000000)change in diastolic blood pressure (CMO:0001016)7150993088150993089Human
597031018GWAS1127092_Hglomerular filtration rate QTL GWAS1127092 (human)0.0000004glomerular filtration rate7150993088150993089Human
628376203GWAS2296427_Hplatelet component distribution width QTL GWAS2296427 (human)6e-10platelet component distribution width7150993088150993089Human

Markers in Region
D7S636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,699,426 - 150,699,567UniSTSGRCh37
GRCh377150,699,346 - 150,699,450UniSTSGRCh37
GRCh377150,699,444 - 150,699,599UniSTSGRCh37
Build 367150,330,359 - 150,330,500RGDNCBI36
Celera7145,256,759 - 145,256,902RGD
Celera7145,256,777 - 145,256,934UniSTS
Celera7145,256,679 - 145,256,783UniSTS
Cytogenetic Map7q36UniSTS
HuRef7144,511,694 - 144,511,798UniSTS
HuRef7144,511,774 - 144,511,907UniSTS
HuRef7144,511,792 - 144,511,939UniSTS
CRA_TCAGchr7v27150,028,938 - 150,029,042UniSTS
CRA_TCAGchr7v27150,029,018 - 150,029,161UniSTS
CRA_TCAGchr7v27150,029,036 - 150,029,193UniSTS
Marshfield Genetic Map7162.33RGD
Genethon Genetic Map7165.0UniSTS
TNG Radiation Hybrid Map767811.0UniSTS
Stanford-G3 RH Map77751.0UniSTS
GeneMap99-G3 RH Map78294.0UniSTS
RH99113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,709,415 - 150,709,560UniSTSGRCh37
Build 367150,340,348 - 150,340,493RGDNCBI36
Celera7145,266,748 - 145,266,893RGD
Cytogenetic Map7q36UniSTS
Cytogenetic Map7q36.1UniSTS
HuRef7144,521,753 - 144,521,898UniSTS
CRA_TCAGchr7v27150,039,004 - 150,039,149UniSTS
GeneMap99-GB4 RH Map7675.22UniSTS
GDB:374071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,699,425 - 150,699,598UniSTSGRCh37
Build 367150,330,358 - 150,330,531RGDNCBI36
Celera7145,256,758 - 145,256,933RGD
Cytogenetic Map7q36UniSTS
HuRef7144,511,773 - 144,511,938UniSTS
CRA_TCAGchr7v27150,029,017 - 150,029,192UniSTS
STS-U24214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,690,610 - 150,690,733UniSTSGRCh37
Build 367150,321,543 - 150,321,666RGDNCBI36
Celera7145,247,606 - 145,247,729RGD
Cytogenetic Map7q36UniSTS
HuRef7144,503,157 - 144,503,280UniSTS
CRA_TCAGchr7v27150,019,865 - 150,019,988UniSTS
GeneMap99-GB4 RH Map7675.32UniSTS
NOS3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,698,465 - 150,698,704UniSTSGRCh37
GRCh377150,689,771 - 150,689,957UniSTSGRCh37
GRCh377150,692,239 - 150,692,525UniSTSGRCh37
Build 367150,320,704 - 150,320,890RGDNCBI36
Celera7145,246,767 - 145,246,953RGD
Celera7145,249,235 - 145,249,521UniSTS
Celera7145,255,798 - 145,256,037UniSTS
Cytogenetic Map7q36UniSTS
HuRef7144,504,786 - 144,505,072UniSTS
HuRef7144,502,318 - 144,502,504UniSTS
HuRef7144,510,813 - 144,511,052UniSTS
CRA_TCAGchr7v27150,019,026 - 150,019,212UniSTS
CRA_TCAGchr7v27150,021,494 - 150,021,780UniSTS
CRA_TCAGchr7v27150,028,057 - 150,028,296UniSTS
D7S759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,694,605 - 150,694,811UniSTSGRCh37
Build 367150,325,538 - 150,325,744RGDNCBI36
Celera7145,251,938 - 145,252,144RGD
Cytogenetic Map7q36UniSTS
HuRef7144,506,953 - 144,507,159UniSTS
CRA_TCAGchr7v27150,024,197 - 150,024,403UniSTS
D7S1880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,701,534 - 150,701,686UniSTSGRCh37
Build 367150,332,467 - 150,332,619RGDNCBI36
Celera7145,258,867 - 145,259,019RGD
Cytogenetic Map7q36UniSTS
HuRef7144,513,865 - 144,514,017UniSTS
CRA_TCAGchr7v27150,031,127 - 150,031,279UniSTS
GDB:4585682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,691,331 - 150,691,409UniSTSGRCh37
Build 367150,322,264 - 150,322,342RGDNCBI36
Celera7145,248,327 - 145,248,405RGD
Cytogenetic Map7q36UniSTS
HuRef7144,503,878 - 144,503,956UniSTS
CRA_TCAGchr7v27150,020,586 - 150,020,664UniSTS
D7S2866  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,711,361 - 150,711,639UniSTSGRCh37
Build 367150,342,294 - 150,342,572RGDNCBI36
Celera7145,268,694 - 145,268,972RGD
Cytogenetic Map7q36UniSTS
Cytogenetic Map7q36.1UniSTS
HuRef7144,523,699 - 144,523,977UniSTS
CRA_TCAGchr7v27150,040,950 - 150,041,228UniSTS
Stanford-G3 RH Map77761.0UniSTS
GeneMap99-G3 RH Map78304.0UniSTS
MARC_6739-6740:982537599:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,707,998 - 150,709,477UniSTSGRCh37
Celera7145,265,331 - 145,266,810UniSTS
HuRef7144,520,326 - 144,521,815UniSTS
CRA_TCAGchr7v27150,037,587 - 150,039,066UniSTS
D7S636  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q36UniSTS
Marshfield Genetic Map7162.33UniSTS
Genethon Genetic Map7165.0UniSTS
NOS3  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q36UniSTS
D7S636  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q36UniSTS
TNG Radiation Hybrid Map767811.0UniSTS
Stanford-G3 RH Map77751.0UniSTS
GeneMap99-G3 RH Map78294.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2427 2788 2245 4915 1720 2324 5 620 1832 463 2249 7145 6333 37 3699 832 1719 1594 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001160109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001160110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001160111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AACC02000108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF415200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF519768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH001515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI082109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU731828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB987955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D26607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA859819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ256129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ256130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ256131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU332855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB831656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX853577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX853578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX853579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M93718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M95296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PP892416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PP892418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PP892419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PP892420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S80791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X76303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000297494   ⟹   ENSP00000297494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,991,017 - 151,014,588 (+)Ensembl
Ensembl Acc Id: ENST00000460603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,001,867 - 151,002,963 (+)Ensembl
Ensembl Acc Id: ENST00000461406   ⟹   ENSP00000417143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,991,104 - 151,014,474 (+)Ensembl
Ensembl Acc Id: ENST00000467517   ⟹   ENSP00000420551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,993,804 - 151,003,935 (+)Ensembl
Ensembl Acc Id: ENST00000468293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,010,520 - 151,013,378 (+)Ensembl
Ensembl Acc Id: ENST00000473057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,008,874 - 151,009,570 (+)Ensembl
Ensembl Acc Id: ENST00000475017   ⟹   ENSP00000418245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,008,937 - 151,012,065 (+)Ensembl
Ensembl Acc Id: ENST00000475454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,012,406 - 151,013,529 (+)Ensembl
Ensembl Acc Id: ENST00000477227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7151,010,533 - 151,014,289 (+)Ensembl
Ensembl Acc Id: ENST00000484524   ⟹   ENSP00000420215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,993,804 - 151,003,935 (+)Ensembl
Ensembl Acc Id: ENST00000908206   ⟹   ENSP00000578265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,993,728 - 151,015,653 (+)Ensembl
Ensembl Acc Id: ENST00000943232   ⟹   ENSP00000613291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,993,781 - 151,014,942 (+)Ensembl
Ensembl Acc Id: ENST00000943234   ⟹   ENSP00000613293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,993,782 - 151,014,585 (+)Ensembl
RefSeq Acc Id: NM_000603   ⟹   NP_000594
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,991,017 - 151,014,588 (+)NCBI
GRCh377150,688,144 - 150,711,687 (+)ENTREZGENE
Build 367150,319,080 - 150,342,609 (+)NCBI Archive
HuRef7144,500,690 - 144,524,025 (+)ENTREZGENE
CHM1_17150,696,541 - 150,720,093 (+)NCBI
T2T-CHM13v2.07152,163,824 - 152,187,711 (+)NCBI
CRA_TCAGchr7v27150,017,398 - 150,041,276 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001160109   ⟹   NP_001153581
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,993,782 - 151,003,940 (+)NCBI
GRCh377150,688,144 - 150,711,687 (+)ENTREZGENE
HuRef7144,500,690 - 144,524,025 (+)ENTREZGENE
CHM1_17150,699,290 - 150,709,432 (+)NCBI
T2T-CHM13v2.07152,166,590 - 152,177,066 (+)NCBI
CRA_TCAGchr7v27150,017,398 - 150,041,276 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001160110   ⟹   NP_001153582
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,993,804 - 151,003,935 (+)NCBI
GRCh377150,688,144 - 150,711,687 (+)ENTREZGENE
HuRef7144,500,690 - 144,524,025 (+)ENTREZGENE
CHM1_17150,699,290 - 150,709,432 (+)NCBI
T2T-CHM13v2.07152,166,612 - 152,177,061 (+)NCBI
CRA_TCAGchr7v27150,017,398 - 150,041,276 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001160111   ⟹   NP_001153583
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,993,804 - 151,003,935 (+)NCBI
GRCh377150,688,144 - 150,711,687 (+)ENTREZGENE
HuRef7144,500,690 - 144,524,025 (+)ENTREZGENE
CHM1_17150,699,290 - 150,709,432 (+)NCBI
T2T-CHM13v2.07152,166,612 - 152,177,061 (+)NCBI
CRA_TCAGchr7v27150,017,398 - 150,041,276 (+)ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_000594 (Get FASTA)   NCBI Sequence Viewer  
  NP_001153581 (Get FASTA)   NCBI Sequence Viewer  
  NP_001153582 (Get FASTA)   NCBI Sequence Viewer  
  NP_001153583 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36364 (Get FASTA)   NCBI Sequence Viewer  
  AAA36365 (Get FASTA)   NCBI Sequence Viewer  
  AAA36372 (Get FASTA)   NCBI Sequence Viewer  
  AAA36374 (Get FASTA)   NCBI Sequence Viewer  
  AAD14336 (Get FASTA)   NCBI Sequence Viewer  
  AAH63294 (Get FASTA)   NCBI Sequence Viewer  
  AAH69465 (Get FASTA)   NCBI Sequence Viewer  
  AAK83389 (Get FASTA)   NCBI Sequence Viewer  
  AAL07497 (Get FASTA)   NCBI Sequence Viewer  
  AAM74944 (Get FASTA)   NCBI Sequence Viewer  
  ABB79838 (Get FASTA)   NCBI Sequence Viewer  
  ABB79839 (Get FASTA)   NCBI Sequence Viewer  
  ABB79840 (Get FASTA)   NCBI Sequence Viewer  
  ABY87544 (Get FASTA)   NCBI Sequence Viewer  
  AFX88320 (Get FASTA)   NCBI Sequence Viewer  
  AFX88321 (Get FASTA)   NCBI Sequence Viewer  
  AFX88322 (Get FASTA)   NCBI Sequence Viewer  
  BAD97356 (Get FASTA)   NCBI Sequence Viewer  
  BAF85617 (Get FASTA)   NCBI Sequence Viewer  
  BAG37648 (Get FASTA)   NCBI Sequence Viewer  
  BAH13275 (Get FASTA)   NCBI Sequence Viewer  
  BAH13779 (Get FASTA)   NCBI Sequence Viewer  
  CAA53950 (Get FASTA)   NCBI Sequence Viewer  
  CDI44688 (Get FASTA)   NCBI Sequence Viewer  
  EAL24494 (Get FASTA)   NCBI Sequence Viewer  
  EAW54069 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000297494
  ENSP00000297494.3
  ENSP00000420215
  ENSP00000420215.1
  ENSP00000420551
  ENSP00000420551.1
GenBank Protein P29474 (Get FASTA)   NCBI Sequence Viewer  
  XBS30760 (Get FASTA)   NCBI Sequence Viewer  
  XBS30762 (Get FASTA)   NCBI Sequence Viewer  
  XBS30763 (Get FASTA)   NCBI Sequence Viewer  
  XBS30764 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000594   ⟸   NM_000603
- Peptide Label: isoform 1
- UniProtKB: Q6GSL5 (UniProtKB/Swiss-Prot),   Q548C1 (UniProtKB/Swiss-Prot),   Q14434 (UniProtKB/Swiss-Prot),   Q14251 (UniProtKB/Swiss-Prot),   Q13662 (UniProtKB/Swiss-Prot),   E9PFR2 (UniProtKB/Swiss-Prot),   B2RCQ1 (UniProtKB/Swiss-Prot),   A8KA63 (UniProtKB/Swiss-Prot),   A0S0A8 (UniProtKB/Swiss-Prot),   A0S0A7 (UniProtKB/Swiss-Prot),   Q9UDC6 (UniProtKB/Swiss-Prot),   P29474 (UniProtKB/Swiss-Prot),   A0A090N8H8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001153583   ⟸   NM_001160111
- Peptide Label: isoform 4
- UniProtKB: A0S0A6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001153582   ⟸   NM_001160110
- Peptide Label: isoform 3
- UniProtKB: A0S0A6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001153581   ⟸   NM_001160109
- Peptide Label: isoform 2
- UniProtKB: A0S0A6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000420551   ⟸   ENST00000467517
Ensembl Acc Id: ENSP00000297494   ⟸   ENST00000297494
Ensembl Acc Id: ENSP00000420215   ⟸   ENST00000484524
Ensembl Acc Id: ENSP00000418245   ⟸   ENST00000475017
Ensembl Acc Id: ENSP00000417143   ⟸   ENST00000461406
Ensembl Acc Id: ENSP00000578265   ⟸   ENST00000908206
Ensembl Acc Id: ENSP00000613291   ⟸   ENST00000943232
Ensembl Acc Id: ENSP00000613293   ⟸   ENST00000943234
Protein Domains
FAD-binding FR-type   Flavodoxin-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P29474-F1-model_v2 AlphaFold P29474 1-1203 view protein structure

Promoters
RGD ID:6805563
Promoter ID:HG_KWN:60271
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000404733,   NM_001160109,   NM_001160110,   NM_001160111
Position:
Human AssemblyChrPosition (strand)Source
Build 367150,320,756 - 150,321,256 (+)MPROMDB
RGD ID:6813249
Promoter ID:HG_ACW:75057
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:NOS3.HAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 367150,341,071 - 150,342,042 (+)MPROMDB
RGD ID:7212325
Promoter ID:EPDNEW_H11909
Type:initiation region
Name:NOS3_2
Description:nitric oxide synthase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11910  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,991,059 - 150,991,119EPDNEW
RGD ID:7212327
Promoter ID:EPDNEW_H11910
Type:initiation region
Name:NOS3_1
Description:nitric oxide synthase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11909  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,993,782 - 150,993,842EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7876 AgrOrtholog
COSMIC NOS3 COSMIC
Ensembl Genes ENSG00000164867 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297494 ENTREZGENE
  ENST00000297494.8 UniProtKB/Swiss-Prot
  ENST00000467517 ENTREZGENE
  ENST00000467517.1 UniProtKB/Swiss-Prot
  ENST00000484524 ENTREZGENE
  ENST00000484524.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.360 UniProtKB/Swiss-Prot
  3.40.50.80 UniProtKB/Swiss-Prot
  3.90.440.10 UniProtKB/Swiss-Prot
  NADPH-cytochrome p450 Reductase, Chain A, domain 3 UniProtKB/Swiss-Prot
  Nitric Oxide Synthase, Chain A, domain 1 UniProtKB/Swiss-Prot
  Nitric Oxide Synthase, Chain A, domain 3 UniProtKB/Swiss-Prot
  Translation factors UniProtKB/Swiss-Prot
GTEx ENSG00000164867 GTEx
HGNC ID HGNC:7876 ENTREZGENE
Human Proteome Map NOS3 Human Proteome Map
InterPro CysJ-like_FAD-binding UniProtKB/Swiss-Prot
  FAD-bd_FR_type UniProtKB/Swiss-Prot
  Flavdoxin-like UniProtKB/Swiss-Prot
  Flavodoxin/NO_synth UniProtKB/Swiss-Prot
  Flavoprot_Pyr_Nucl_cyt_Rdtase UniProtKB/Swiss-Prot
  Flavoprotein-like_sf UniProtKB/Swiss-Prot
  FNR_nucleotide-bd UniProtKB/Swiss-Prot
  NADPH_Cyt_P450_Rdtase_alpha UniProtKB/Swiss-Prot
  NOS UniProtKB/Swiss-Prot
  NOS_dom_1 UniProtKB/Swiss-Prot
  NOS_dom_2 UniProtKB/Swiss-Prot
  NOS_dom_3 UniProtKB/Swiss-Prot
  NOS_euk UniProtKB/Swiss-Prot
  NOS_N UniProtKB/Swiss-Prot
  NOS_N_sf UniProtKB/Swiss-Prot
  OxRdtase_FAD/NAD-bd UniProtKB/Swiss-Prot
  Riboflavin_synthase-like_b-brl UniProtKB/Swiss-Prot
KEGG Report hsa:4846 UniProtKB/Swiss-Prot
NCBI Gene 4846 ENTREZGENE
OMIM 163729 OMIM
PANTHER NITRIC OXIDE SYNTHASE OXYGENASE UniProtKB/Swiss-Prot
  NITRIC OXIDE SYNTHASE OXYGENASE UniProtKB/Swiss-Prot
Pfam FAD_binding_1 UniProtKB/Swiss-Prot
  Flavodoxin_1 UniProtKB/Swiss-Prot
  NAD_binding_1 UniProtKB/Swiss-Prot
  NO_synthase UniProtKB/Swiss-Prot
PharmGKB NOS3 RGD, PharmGKB
PIRSF NOS UniProtKB/Swiss-Prot
PRINTS FLAVODOXIN UniProtKB/Swiss-Prot
  FPNCR UniProtKB/Swiss-Prot
PROSITE FAD_FR UniProtKB/Swiss-Prot
  FLAVODOXIN_LIKE UniProtKB/Swiss-Prot
  NOS UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52218 UniProtKB/Swiss-Prot
  SSF52343 UniProtKB/Swiss-Prot
  SSF56512 UniProtKB/Swiss-Prot
  SSF63380 UniProtKB/Swiss-Prot
UniProt A0A090N8H8 ENTREZGENE, UniProtKB/TrEMBL
  A0S0A6 ENTREZGENE, UniProtKB/TrEMBL
  A0S0A7 ENTREZGENE
  A0S0A8 ENTREZGENE
  A8KA63 ENTREZGENE
  B2RCQ1 ENTREZGENE
  E7ESA7_HUMAN UniProtKB/TrEMBL
  E9PFR2 ENTREZGENE
  H7C4V4_HUMAN UniProtKB/TrEMBL
  NOS3_HUMAN UniProtKB/Swiss-Prot
  O14937_HUMAN UniProtKB/TrEMBL
  P29474 ENTREZGENE
  Q13662 ENTREZGENE
  Q14251 ENTREZGENE
  Q14434 ENTREZGENE
  Q548C1 ENTREZGENE
  Q6GSL5 ENTREZGENE
  Q9UDC6 ENTREZGENE
UniProt Secondary A0S0A7 UniProtKB/Swiss-Prot
  A0S0A8 UniProtKB/Swiss-Prot
  A8KA63 UniProtKB/Swiss-Prot
  B2RCQ1 UniProtKB/Swiss-Prot
  E9PFR2 UniProtKB/Swiss-Prot
  Q13662 UniProtKB/Swiss-Prot
  Q14251 UniProtKB/Swiss-Prot
  Q14434 UniProtKB/Swiss-Prot
  Q548C1 UniProtKB/Swiss-Prot
  Q6GSL5 UniProtKB/Swiss-Prot
  Q9UDC6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 NOS3  nitric oxide synthase 3  NOS3  nitric oxide synthase 3 (endothelial cell)  Symbol and/or name change 5135510 APPROVED
2013-11-26 NOS3  nitric oxide synthase 3 (endothelial cell)  NOS3  nitric oxide synthase 3, endothelial cell  Symbol and/or name change 5135510 APPROVED
2013-11-20 NOS3  nitric oxide synthase 3 [endothelial cell]  NOS3  nitric oxide synthase 3 (endothelial cell)  Name changed 629549 APPROVED
2013-11-20 NOS3  nitric oxide synthase 3 (endothelial cell)  NOS3  nitric oxide synthase 3 [endothelial cell]  Name changed 629549 APPROVED
2013-11-20 NOS3  nitric oxide synthase 3, endothelial cell  NOS3  nitric oxide synthase 3 (endothelial cell)  Name changed 629549 APPROVED