GWAS1476443_H QTL Report (Homo sapiens) - Rat Genome Database

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QTL Registration

QTL: GWAS1476443_H (lactate measurement QTL GWAS1476443 (human)) Homo sapiens

Symbol: GWAS1476443_H
Name: lactate measurement QTL GWAS1476443 (human)
RGD ID: 597380369
Trait: blood lactate amount   (VT:0010616)    
muscle lactate amount   (VT:1000429)    
Measurement Type: blood lactate level   (CMO:0001303)    
LOD Score: Not Available
P Value: 7.0E-7
Variance: Not Available
Position
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh38227,361,799 - 27,361,800RGD_MAPPER_PIPELINEGRCh38
GRCh37227,584,666 - 27,584,667RGD_MAPPER_PIPELINEGRCh37
Population Stats: Not Available
JBrowse: View Region in Genome Browser (JBrowse)
Model



Experimental Data Annotations    Click to see Annotation Detail View

Clinical Measurement
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS1476443_HHumanblood lactate level  IAGPrs7586601405850206 GWAS_CATALOGPMID:23823483

Vertebrate Trait
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS1476443_HHumanblood lactate amount  IAGPrs7586601405850206 GWAS_CATALOGPMID:23823483
GWAS1476443_HHumanmuscle lactate amount  IAGPrs7586601405850206 GWAS_CATALOGPMID:23823483

Experimental Factor Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
GWAS1476443_HHumanlactate measurement  IAGPrs7586601405850206 GWAS_CATALOGPMID:23823483
Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement

Vertebrate Trait

References

References - curated
# Reference Title Reference Citation
1. RGD GWAS Catalog Import Pipeline RGD pipeline to import data from GWAS Catalog and create human variant and QTL records

Region

Genes in Region
The following Genes overlap with this region.    Full Report CSV TAB Printer Analysis Tools
RGD IDSymbolNameChrStartStopSpecies
38669658GTF3C2-AS2GTF3C2 antisense RNA 222735676527367880Human

Position Markers

Peak: (rs7586601)
Human AssemblyChrPosition (strand)Source
GRCh38227,361,799 - 27,361,800RGD_MAPPER_PIPELINE


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597378665GWAS1474739_Halpha-hydroxybutyric acid measurement QTL GWAS1474739 (human)0.000002alpha-hydroxybutyric acid measurement22736179927361800Human
597380369GWAS1476443_Hlactate measurement QTL GWAS1476443 (human)0.0000007blood lactate amount (VT:0010616)blood lactate level (CMO:0001303)22736179927361800Human
597504854GWAS1600928_Hdiabetes mellitus QTL GWAS1600928 (human)3e-08pancreas integrity trait (VT:0010560)22736179927361800Human


Additional Information

GWAS QTLs Related by Peak Marker
Data has come from the GWAS Catalog   
The highlighted row represents the current QTL
QTL GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG Peak Marker Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GWAS1474739_H GCST009391 Metabolite levels 2,076 European ancestry individuals ? NR 0.000002 5.699 rs7586601 0.17502604 alpha-hydroxybutyric acid measurement (EFO:0010458)
 PMID:23823483
GWAS1476443_H GCST009391 Metabolite levels 2,076 European ancestry individuals ? NR 7E-7 6.155 rs7586601 0.18250819 lactate measurement (EFO:0007745)
 PMID:23823483
GWAS1600928_H GCST90267278 Diabetes (standard GWA) 283,227 European ancestry individuals G NR 3E-8 7.523 rs7586601 0.0031285 diabetes mellitus (EFO:0000400)
 PMID:37106081
Database Acc Id Source(s)
GWAS Catalog GCST009391 GWAS Catalog

RGD Curation Notes
Note Type Note Reference