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References
References - curated
Region Genes in Region
RGD ID | Symbol | Name | Chr | Start | Stop | Species | 1343424 | CYP2A6 | cytochrome P450 family 2 subfamily A member 6 | 19 | 40843541 | 40850447 | Human | |
Position Markers
Peak: (rs56113850) |
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QTLs in Region (GRCh38)
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
Additional Information
GWAS QTLs Related by Peak Marker
Data has come from the GWAS Catalog | ![]() |
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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 |
GWAS549493_H | GCST003851 | Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio) | 5,323 European ancestry individuals | T | 0.43 | 9E-22 | 21.046 | rs56113850 | 9.59 | caffeine metabolite measurement (EFO:0007872) |
PMID:27702941 |
GWAS549496_H | GCST003847 | Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) level) | 5,353 European ancestry individuals | T | 0.43 | 6E-8 | 7.222 | rs56113850 | 5.43 | caffeine metabolite measurement (EFO:0007872) |
PMID:27702941 |
GWAS549497_H | GCST003849 | Caffeine metabolism (plasma 3,7-dimethylxanthine (theobromine) level) | 8,911 European ancestry individuals | T | 0.43 | 0.000004 | 5.398 | rs56113850 | 4.59 | caffeine metabolite measurement (EFO:0007872) |
PMID:27702941 |
GWAS1643739_H | GCST90479563 | creatinine (minimum, inv-norm transformed) | 117,108 African American or Afro-Caribbean individuals, 57,292 Hispanic or Latin American individuals, 6,305 East Asian ancestry individuals, 421,910 European ancestry individuals | T | 0.4861 | 2E-12 | 11.699 | rs56113850 | 0.01969 | obsolete_creatinine measurement (EFO:0004518) |
PMID:39024449 |
GWAS1644073_H | GCST90475571 | Cancer within the respiratory system (PheCode 165) | 14,001 European ancestry cases, 433,059 European ancestry controls | T | 0.4573 | 7E-21 | 20.155 | rs56113850 | 0.1269 | PMID:39024449 | |
GWAS1644084_H | GCST90475573 | Cancer of bronchus; lung (PheCode 165.1) | 13,065 European ancestry cases, 434,597 European ancestry controls | T | 0.4573 | 3E-21 | 20.523 | rs56113850 | 0.1325 | PMID:39024449 | |
GWAS1644250_H | GCST90475559 | Asphyxia and hypoxemia (PheCode 1013) | 14,950 European ancestry cases, 420,369 European ancestry controls | T | 0.4575 | 5E-13 | 12.302 | rs56113850 | 0.09533 | asphyxia (EFO:0009446) hypoxemia (EFO:0009447) |
PMID:39024449 |
GWAS1126796_H | GCST008809 | Smoking behaviour (cigarettes smoked per day) | up to 153,918 European ancestry individuals | C | 0.575 | 3E-68 | 67.523 | rs56113850 | 0.0719 | cigarettes per day measurement (EFO:0006525) |
PMID:30679032 |
GWAS1126850_H | GCST008803 | Smoking behaviour (cigarette pack-years) | up to 150,993 European ancestry individuals | C | 0.572 | 6E-25 | 24.222 | rs56113850 | 0.0385 | tobacco smoke exposure measurement (EFO:0009115) |
PMID:30679032 |
GWAS1644619_H | GCST90479598 | estimated glomerular filtration rate (eGFR, maximum, inv-norm transformed) | 110,850 African American or Afro-Caribbean individuals, 55,242 Hispanic or Latin American individuals, 6,249 East Asian ancestry individuals, 398,886 European ancestry individuals | T | 0.486 | 5E-12 | 11.302 | rs56113850 | 0.01983 | obsolete_glomerular filtration rate (EFO:0005208) |
PMID:39024449 |
GWAS1130454_H | GCST010245 | LDL cholesterol levels | 440,546 European ancestry individuals | T | 0.422594 | 2E-10 | 9.699 | rs56113850 | 0.013364 | low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:32203549 |
GWAS1647362_H | GCST90476037 | Dependence on respirator [Ventilator] or supplemental oxygen (PheCode 509.8) | 9,729 European ancestry cases, 432,527 European ancestry controls | T | 0.4575 | 1E-11 | 11 | rs56113850 | 0.1109 | invasive mechanical ventilation (EFO:0010720) |
PMID:39024449 |
GWAS1647821_H | GCST90479761 | Asphyxia and hypoxemia (PheCode 1013) | 1,922 African American or Afro-Caribbean cases, 117,066 African American or Afro-Caribbean controls, 14,950 European ancestry cases, 420,369 European ancestry controls, 1,220 Hispanic or Latin American cases, 57,306 Hispanic or Latin American controls | T | 0.485 | 3E-14 | 13.523 | rs56113850 | 0.09771 | asphyxia (EFO:0009446) hypoxemia (EFO:0009447) |
PMID:39024449 |
GWAS1648016_H | GCST90479789 | Cancer of bronchus; lung (PheCode 165.1) | 2,647 African American or Afro-Caribbean cases, 118,437 African American or Afro-Caribbean controls, 13,065 European ancestry cases, 434,597 European ancestry controls, 624 Hispanic or Latin American cases, 59,042 Hispanic or Latin American controls | T | 0.4846 | 3E-24 | 23.523 | rs56113850 | 0.1383 | PMID:39024449 | |
GWAS1648039_H | GCST90479790 | Cancer within the respiratory system (PheCode 165) | 2,859 African American or Afro-Caribbean cases, 118,073 African American or Afro-Caribbean controls, 14,001 European ancestry cases, 433,059 European ancestry controls, 697 Hispanic or Latin American cases, 58,918 Hispanic or Latin American controls | T | 0.4846 | 1E-24 | 24 | rs56113850 | 0.1344 | PMID:39024449 | |
GWAS1139827_H | GCST009971 | Nicotine metabolite ratio in current smokers | 5,185 European ancestry individuals | T | 0.447 | 6E-261 | 260.222 | rs56113850 | 0.682 | nicotine metabolite ratio (EFO:0007794) |
PMID:32157176 |
GWAS1139846_H | GCST009966 | Smoking intensity (cotinine levels/cigarettes per day) | 4,772 European ancestry individuals | T | 0.447 | 3E-13 | 12.523 | rs56113850 | 0.155 | cotinine measurement (EFO:0007813) cigarettes per day measurement (EFO:0006525) |
PMID:32157176 |
GWAS1140018_H | GCST011702 | Smoking cessation | 450,129 European ancestry individuals | C | NR | 7E-33 | 32.155 | rs56113850 | 0.946 | smoking cessation (EFO:0004319) |
PMID:33082346 |
GWAS1144712_H | GCST012201 | Lung adenocarcinoma | 15,581 Chinese or European ancestry cases, 27,355 Chinese or European ancestry controls | C | NR | 0.000008 | 5.097 | rs56113850 | 0.93 | lung adenocarcinoma (EFO:0000571) |
PMID:32889700 |
GWAS1144839_H | GCST012199 | Non-small cell lung cancer | 27,120 Chinese or European ancestry cases, 27,355 Chinese or European ancestry controls | C | NR | 3E-9 | 8.523 | rs56113850 | 0.92 | non-small cell lung carcinoma (EFO:0003060) |
PMID:32889700 |
GWAS1652564_H | GCST90475197 | chloride (minimum, inv-norm transformed) | 412,365 European ancestry individuals | T | 0.4572 | 4E-11 | 10.398 | rs56113850 | 0.0191 | chloride measurement (EFO:0009284) |
PMID:39024449 |
GWAS1158025_H | GCST004750 | Squamous cell lung carcinoma | 7,426 European ancestry cases, 55,627 European ancestry controls | C | 0.55529151 | 7E-11 | 10.155 | rs56113850 | 1.1555213 | squamous cell lung carcinoma (EFO:0000708) |
PMID:28604730 |
GWAS1652685_H | GCST90475229 | creatinine (mean, inv-norm transformed) | 421,411 European ancestry individuals | T | 0.4572 | 5E-17 | 16.302 | rs56113850 | 0.02341 | obsolete_creatinine measurement (EFO:0004518) |
PMID:39024449 |
GWAS1652814_H | GCST90475280 | estimated glomerular filtration rate (eGFR, maximum, inv-norm transformed) | 398,886 European ancestry individuals | T | 0.4571 | 2E-18 | 17.699 | rs56113850 | 0.02443 | obsolete_glomerular filtration rate (EFO:0005208) |
PMID:39024449 |
GWAS1653103_H | GCST90475232 | creatinine (minimum, inv-norm transformed) | 421,910 European ancestry individuals | T | 0.4572 | 2E-20 | 19.699 | rs56113850 | 0.02611 | obsolete_creatinine measurement (EFO:0004518) |
PMID:39024449 |
GWAS1159853_H | GCST004748 | Lung cancer | 29,266 European ancestry cases, 56,450 European ancestry controls | C | 0.559578448 | 5E-19 | 18.302 | rs56113850 | 1.1306498 | lung carcinoma (EFO:0001071) |
PMID:28604730 |
GWAS1159881_H | GCST004744 | Lung adenocarcinoma | 11,273 European ancestry cases, 55,483 European ancestry controls | C | 0.555412481999999 | 9E-10 | 9.046 | rs56113850 | 1.121034 | lung adenocarcinoma (EFO:0000571) |
PMID:28604730 |
GWAS1653681_H | GCST90475282 | estimated glomerular filtration rate (eGFR, mean, inv-norm transformed) | 398,886 European ancestry individuals | T | 0.4571 | 3E-17 | 16.523 | rs56113850 | 0.02324 | obsolete_glomerular filtration rate (EFO:0005208) |
PMID:39024449 |
GWAS1165457_H | GCST004749 | Lung cancer in ever smokers | 23,223 European ancestry cases, 16,964 European ancestry controls | C | 0.564992436 | 4E-13 | 12.398 | rs56113850 | 1.1372905 | lung carcinoma (EFO:0001071) |
PMID:28604730 |
GWAS651257_H | GCST009922 | Nicotine metabolite ratio in current smokers | 1,518 Finnish ancestry individuals | ? | NR | 6E-86 | 85.222 | rs56113850 | 0.653 | nicotine metabolite ratio (EFO:0007794) |
PMID:26407342 |
GWAS1664502_H | GCST90476388 | Do you currently smoke cigarettes? | 30,711 European ancestry cases, 135,595 European ancestry controls | T | 0.4549 | 6E-19 | 18.222 | rs56113850 | 0.09176 | smoking status measurement (EFO:0006527) |
PMID:39024449 |
GWAS1664505_H | GCST90476389 | Do you smoke now? | 53,560 European ancestry cases, 178,094 European ancestry controls | T | 0.4561 | 1E-27 | 27 | rs56113850 | 0.08818 | obsolete_smoking behaviour measurement (EFO:0005671) |
PMID:39024449 |
GWAS1664869_H | GCST90476390 | How many years have you or did you smoke cigarettes? (inv-normal transformed) | 154,894 European ancestry individuals | T | 0.4551 | 2E-16 | 15.699 | rs56113850 | 0.03562 | obsolete_smoking behaviour measurement (EFO:0005671) |
PMID:39024449 |
GWAS1669003_H | GCST90480265 | Dependence on respirator [Ventilator] or supplemental oxygen (PheCode 509.8) | 1,765 African American or Afro-Caribbean cases, 118,240 African American or Afro-Caribbean controls, 9,729 European ancestry cases, 432,527 European ancestry controls, 781 Hispanic or Latin American cases, 58,258 Hispanic or Latin American controls | T | 0.4848 | 3E-12 | 11.523 | rs56113850 | 0.108 | invasive mechanical ventilation (EFO:0010720) |
PMID:39024449 |
None Available | GCST007576 | Chronotype | 449,734 European ancestry individuals | C | 0.5769 | 2E-10 | 9.699 | rs56113850 | 1.0231643 | chronotype measurement (EFO:0008328) |
PMID:30696823 |
None Available | GCST008524 | Bitter non-alcoholic beverage consumption | 85,852 European ancestry individuals | C | 0.5766 | 7E-11 | 10.155 | rs56113850 | 0.0107 | bitter non-alcoholic beverage consumption measurement (EFO:0010093) |
PMID:31046077 |
GWAS1210121_H | GCST008521 | Bitter beverage consumption | 85,852 European ancestry individuals | C | 0.5766 | 8E-11 | 10.097 | rs56113850 | 0.0107 | bitter beverage consumption measurement (EFO:0010089) |
PMID:31046077 |
GWAS1210515_H | GCST008526 | Coffee consumption | 335,909 European ancestry individuals | C | 0.5776 | 8E-16 | 15.097 | rs56113850 | 0.0121 | coffee consumption measurement (EFO:0006781) |
PMID:31046077 |
GWAS734180_H | GCST008834 | Non-small cell lung cancer | 13,327 Chinese ancestry cases, 13,793 European ancestry cases, 13,328 Chinese ancestry controls, 14,027 European ancestry controls | C | 0.487 | 3E-9 | 8.523 | rs56113850 | 1.09 | non-small cell lung carcinoma (EFO:0003060) |
PMID:31326317 |
GWAS738935_H | GCST010243 | Apolipoprotein B levels | 439,214 European ancestry individuals | T | 0.42254 | 6E-11 | 10.222 | rs56113850 | 0.0135934 | apolipoprotein B measurement (EFO:0004615) |
PMID:32203549 |
GWAS1671367_H | GCST90480698 | Do you currently smoke cigarettes? | 7,968 African American or Afro-Caribbean cases, 14,162 African American or Afro-Caribbean controls, 2,697 Hispanic or Latin American cases, 9,680 Hispanic or Latin American controls, 205 East Asian ancestry cases, 1,052 East Asian ancestry controls, 30,711 European ancestry cases, 135,595 European ancestry controls | T | 0.4719 | 7E-15 | 14.155 | rs56113850 | 0.07402 | smoking status measurement (EFO:0006527) |
PMID:39024449 |
GWAS1671370_H | GCST90480700 | Do you smoke now? | 14,691 African American or Afro-Caribbean cases, 23,218 African American or Afro-Caribbean controls, 5,112 Hispanic or Latin American cases, 14,027 Hispanic or Latin American controls, 417 East Asian ancestry cases, 1,539 East Asian ancestry controls, 53,560 European ancestry cases, 178,094 European ancestry controls | T | 0.4763 | 1E-26 | 26 | rs56113850 | 0.08033 | obsolete_smoking behaviour measurement (EFO:0005671) |
PMID:39024449 |
GWAS1218517_H | GCST90455518 | Lung cancer | 39,664 European ancestry cases, 119,158 European ancestry controls, 2,438 African ancestry cases, 62,112 African ancestry controls | T | 0.449 | 1E-43 | 43 | rs56113850 | 0.889 | PMID:39366959 | |
GWAS1218697_H | GCST90455519 | Lung adenocarcinoma (conditioned on cigarettes per day) | 13,292 European ancestry cases, 67,596 European ancestry controls, 595 African ancestry cases, 62,112 African ancestry controls | T | 0.452 | 3E-21 | 20.523 | rs56113850 | 0.887 | lung adenocarcinoma (EFO:0000571) |
PMID:39366959 |
GWAS1219389_H | GCST90455520 | Squamous cell lung carcinoma (conditioned on cigarettes per day) | 8,901 European ancestry cases, 64,477 European ancestry controls, 300 African ancestry cases, 62,112 African ancestry controls | T | 0.451 | 6E-21 | 20.222 | rs56113850 | 0.866 | squamous cell lung carcinoma (EFO:0000708) |
PMID:39366959 |
GWAS1232455_H | GCST90102815 | 3-methylxanthine levels | 8,809 European ancestry individuals | T | NR | 2E-24 | 23.699 | rs56113850 | 0.155 | 3-methylxanthine measurement (EFO:0021175) |
PMID:35050183 |
GWAS1236327_H | GCST90103295 | X-21286 levels | 8,809 European ancestry individuals | T | NR | 8E-12 | 11.097 | rs56113850 | 0.104 | X-21286 measurement (EFO:0800804) |
PMID:35050183 |
GWAS1237182_H | GCST90245090 | 6-hydroxyindole sulfate levels | 14,296 European ancestry individuals | T | 0.4287 | 2E-20 | 19.699 | rs56113850 | 0.09685272 | 6-hydroxyindole sulfate measurement (EFO:0801004) |
PMID:36357675 |
GWAS1237778_H | GCST90103258 | X-12216 levels | 8,809 European ancestry individuals | T | NR | 4E-20 | 19.398 | rs56113850 | 0.139 | X-12216 measurement (EFO:0021294) |
PMID:35050183 |
GWAS769654_H | GCST003264 | Post bronchodilator FEV1/FVC ratio | 10,094 European ancestry current and former smoker individuals, 3,260 African American current and former smoker individuals, 178 current and former smoker individuals | T | 0.462 | 5E-9 | 8.302 | rs56113850 | 0.014 | FEV/FVC ratio (EFO:0004713) response to bronchodilator (GO:0097366) |
PMID:26634245 |
GWAS770249_H | GCST003262 | Post bronchodilator FEV1 | 10,094 European ancestry current and former smoker individuals, 3,260 African American current and former smoker individuals, 178 current and former smoker individuals | T | 0.458 | 2E-8 | 7.699 | rs56113850 | 0.067 | forced expiratory volume (EFO:0004314) response to bronchodilator (GO:0097366) |
PMID:26634245 |
GWAS770796_H | GCST003629 | Nicotine metabolite ratio in current smokers | 437 European ancestry individuals, 364 African American individuals, 453 Latino individuals, 674 Japanese American individuals, 311 Native Hawaiian ancestry individuals | T | NR | 1E-50 | 50 | rs56113850 | 0.3644 | nicotine metabolite ratio (EFO:0007794) |
PMID:27488534 |
None Available | GCST90092866 | Triglyceride levels in large LDL | 115,082 European ancestry individuals | T | 0.420796 | 2E-8 | 7.699 | rs56113850 | 0.0230106 | triglyceride measurement (EFO:0004530) low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:35213538 |
GWAS1248779_H | GCST90092863 | Concentration of large LDL particles | 115,082 European ancestry individuals | T | 0.420796 | 1E-8 | 8 | rs56113850 | 0.0237825 | low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:35213538 |
None Available | GCST90092887 | Concentration of LDL particles | 115,082 European ancestry individuals | T | 0.420796 | 1E-8 | 8 | rs56113850 | 0.0237631 | low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:35213538 |
GWAS1255724_H | GCST90092809 | Apolipoprotein B levels | 115,082 European ancestry individuals | T | 0.420796 | 9E-9 | 8.046 | rs56113850 | 0.0239612 | apolipoprotein B measurement (EFO:0004615) |
PMID:35213538 |
GWAS1255995_H | GCST90092820 | Glycine levels | 114,978 European ancestry individuals | T | 0.420828 | 3E-8 | 7.523 | rs56113850 | 0.0218076 | glycine measurement (EFO:0009767) |
PMID:35213538 |
GWAS806663_H | GCST002525 | Local histogram emphysema pattern | 3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases | T | 0.4 | 0.000001 | 6 | rs56113850 | 0.02 | emphysema pattern measurement (EFO:0005850) |
PMID:25006744 |
GWAS808345_H | GCST002525 | Local histogram emphysema pattern | 3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases | T | 0.40 | 1E-9 | 9 | rs56113850 | 0.02 | emphysema pattern measurement (EFO:0005850) |
PMID:25006744 |
GWAS1258522_H | GCST90092880 | Linoleic acid levels | 115,006 European ancestry individuals | T | 0.420788 | 6E-9 | 8.222 | rs56113850 | 0.0239432 | linoleic acid measurement (EFO:0006807) |
PMID:35213538 |
GWAS1261256_H | GCST90092968 | Cholesterol levels in small VLDL | 115,082 European ancestry individuals | T | 0.420796 | 8E-9 | 8.097 | rs56113850 | 0.0240384 | total cholesterol measurement (EFO:0004574) obsolete_vldl cholesterol measurement (EFO:0008317) |
PMID:35213538 |
None Available | GCST90092976 | Phospholipid levels in small VLDL | 115,082 European ancestry individuals | T | 0.420796 | 3E-8 | 7.523 | rs56113850 | 0.0231974 | obsolete_vldl cholesterol measurement (EFO:0008317) phospholipid measurement (EFO:0004639) |
PMID:35213538 |
None Available | GCST90092963 | Concentration of small LDL particles | 115,082 European ancestry individuals | T | 0.420796 | 8E-9 | 8.097 | rs56113850 | 0.0241421 | low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:35213538 |
None Available | GCST90092972 | Free cholesterol levels in small VLDL | 115,082 European ancestry individuals | T | 0.420796 | 2E-8 | 7.699 | rs56113850 | 0.0235212 | free cholesterol measurement (EFO:0008591) obsolete_vldl cholesterol measurement (EFO:0008317) |
PMID:35213538 |
None Available | GCST90092962 | Total lipid levels in small LDL | 115,082 European ancestry individuals | T | 0.420796 | 1E-8 | 8 | rs56113850 | 0.0237331 | low density lipoprotein cholesterol measurement (EFO:0004611) lipid measurement (EFO:0004529) |
PMID:35213538 |
GWAS1263352_H | GCST90018942 | Serum alkaline phosphatase levels | 344,292 European ancestry individuals, 118,886 East Asian ancestry individuals | C | NR | 1E-89 | 89 | rs56113850 | 0.0472 | alkaline phosphatase measurement (EFO:0004533) |
PMID:34594039 |
GWAS1267493_H | GCST90179151 | Cigarettes smoked per day (MTAG) | 337,334 European ancestry individuals | T | NR | 2E-78 | 77.699 | rs56113850 | 0.04714 | cigarettes per day measurement (EFO:0006525) |
PMID:36376304 |
GWAS1272321_H | GCST90243987 | Cigarettes smoked per day | 783,784 European ancestry, East Asian ancestry, Hispanic or Latin American, African ancestry individuals | C | 0.55 | 3E-214 | 213.523 | rs56113850 | 0.0534 | cigarettes per day measurement (EFO:0006525) |
PMID:36477530 |
GWAS1275804_H | GCST90269559 | Glycine levels (UKB data field 23462) | 88,258 European ancestry individuals | T | 0.420048 | 7E-10 | 9.155 | rs56113850 | 0.0279433 | glycine measurement (EFO:0009767) |
PMID:36764567 |
GWAS1279859_H | GCST90199654 | Paraxanthine levels | 7,840 European ancestry individuals | C | 0.573947 | 3E-12 | 11.523 | rs56113850 | 0.111197 | paraxanthine measurement (EFO:0021178) |
PMID:36635386 |
None Available | GCST90199944 | Indolin-2-one levels | 7,027 European ancestry individuals | C | 0.570252 | 2E-24 | 23.699 | rs56113850 | 0.167321 | indolin-2-one measurement (EFO:0800981) |
PMID:36635386 |
GWAS1283197_H | GCST90243988 | Smoking cessation | 1,400,535 European ancestry, East Asian ancestry, Hispanic or Latin American, African ancestry individuals | C | 0.563 | 1E-120 | 120 | rs56113850 | 0.0303 | smoking cessation (EFO:0004319) |
PMID:36477530 |
GWAS1283287_H | GCST90200562 | X-21286 levels | 8,231 European ancestry individuals | C | 0.576068 | 2E-19 | 18.699 | rs56113850 | 0.136846 | X-21286 measurement (EFO:0800804) |
PMID:36635386 |
None Available | GCST90200573 | X-18935 levels | 4,952 European ancestry individuals | C | 0.606272 | 8E-11 | 10.097 | rs56113850 | 0.131701 | X-18935 measurement (EFO:0800798) |
PMID:36635386 |
GWAS1284359_H | GCST90200483 | X-12216 levels | 8,181 European ancestry individuals | C | 0.577382 | 7E-18 | 17.155 | rs56113850 | 0.129952 | X-12216 measurement (EFO:0021294) |
PMID:36635386 |
GWAS1284585_H | GCST90199644 | Theobromine levels | 8,137 European ancestry individuals | C | 0.576193 | 1E-11 | 11 | rs56113850 | 0.105914 | theobromine measurement (EFO:0021179) |
PMID:36635386 |
GWAS1285157_H | GCST90200002 | 6-hydroxyindole sulfate levels | 8,229 European ancestry individuals | C | 0.57613 | 6E-13 | 12.222 | rs56113850 | 0.109573 | 6-hydroxyindole sulfate measurement (EFO:0801004) |
PMID:36635386 |
GWAS1304141_H | GCST90044900 | Plasma letrozole concentrations in letrozole treated hormone-receptor-positive breast cancer | 228 European ancestry individuals | T | 0.46 | 2E-13 | 12.699 | rs56113850 | 4693.72 | response to aromatase inhibitor (GO:0061477) |
PMID:34096894 |
None Available | GCST012213 | Aerodigestive squamous cell cancer (pleiotropy) | 7,426 European ancestry lung squamous cell carcinoma cases, 5,452 European ancestry oral and oropharynx squamous cell carcinoma cases, 693 European ancestry laryngeal squamous cell carcinoma cases, 316 European ancestry esophageal squamous cell carcinoma cases, 61,961 European ancestry controls | T | 0.41 | 7E-11 | 10.155 | rs56113850 | 0.9 | upper aerodigestive tract neoplasm (EFO:0004284) |
PMID:33667223 |
GWAS1314180_H | GCST011754 | Nicotine dependence | 46,213 European ancestry individuals, 11,787 African American individuals | T | NR | 4E-16 | 15.398 | rs56113850 | 0.031 | nicotine dependence (EFO:0003768) |
PMID:33144568 |
GWAS1321615_H | GCST007464 | Smoking cessation (MTAG) | up to 820,192 European ancestry individuals | C | 0.567 | 6E-10 | 9.222 | rs56113850 | 0.00974331 | smoking cessation (EFO:0004319) |
PMID:30643251 |
GWAS1322631_H | GCST007459 | Smoking behaviour (cigarettes smoked per day) | up to 377,334 European ancestry individuals | C | 0.555 | 4E-99 | 98.398 | rs56113850 | 0.0523096 | cigarettes per day measurement (EFO:0006525) |
PMID:30643251 |
GWAS1322646_H | GCST007460 | Smoking cessation | up to 547,219 European ancestry individuals | C | 0.567 | 2E-48 | 47.699 | rs56113850 | 0.05760633 | smoking cessation (EFO:0004319) |
PMID:30643251 |
GWAS1327581_H | GCST007463 | Cigarettes smoked per day (MTAG) | up to 403,928 European ancestry individuals | C | 0.555 | 5E-58 | 57.302 | rs56113850 | 0.0361686 | cigarettes per day measurement (EFO:0006525) |
PMID:30643251 |
GWAS1078207_H | GCST011125 | Caffeine consumption from coffee | 373,522 European ancestry individuals | T | 0.421821 | 5E-19 | 18.302 | rs56113850 | 0.02071 | coffee consumption measurement (EFO:0006781) |
PMID:33287642 |
GWAS915492_H | GCST011126 | Caffeine consumption from coffee or tea | 362,316 European ancestry individuals | T | 0.421755 | 2E-29 | 28.699 | rs56113850 | 0.02649 | coffee consumption measurement (EFO:0006781) tea consumption measurement (EFO:0010091) |
PMID:33287642 |
GWAS1344049_H | GCST90061018 | Nicotine metabolite ratio in current smokers | 389 European ancestry individuals | C | NR | 7E-22 | 21.155 | rs56113850 | 0.671 | nicotine metabolite ratio (EFO:0007794) |
PMID:34599228 |
GWAS1344050_H | GCST90061019 | Nicotine metabolite ratio in current smokers | 541 European ancestry individuals | C | NR | 1E-37 | 37 | rs56113850 | 0.748 | nicotine metabolite ratio (EFO:0007794) |
PMID:34599228 |
None Available | GCST90019492 | Alanine aminotransferase levels | 342,387 European ancestry individuals, 6,017 African ancestry individuals, 7,325 South Asian ancestry individuals | C | NR | 3E-12 | 11.523 | rs56113850 | 0.0167 | serum alanine aminotransferase measurement (EFO:0004735) |
PMID:33462484 |
GWAS1350094_H | GCST90013405 | Liver enzyme levels (alanine transaminase) | 437,267 European ancestry individuals | T | 0.422385 | 1E-15 | 15 | rs56113850 | 0.00312488 | serum alanine aminotransferase measurement (EFO:0004735) |
PMID:33972514 |
None Available | GCST90092970 | Cholesteryl ester levels in small VLDL | 115,082 European ancestry individuals | T | 0.420796 | 8E-9 | 8.097 | rs56113850 | 0.0240607 | cholesteryl ester measurement (EFO:0010351) obsolete_vldl cholesterol measurement (EFO:0008317) |
PMID:35213538 |
GWAS1354794_H | GCST90093034 | Total lipid levels in very small VLDL | 115,082 European ancestry individuals | T | 0.420796 | 4E-8 | 7.398 | rs56113850 | 0.0224965 | obsolete_vldl cholesterol measurement (EFO:0008317) lipid measurement (EFO:0004529) |
PMID:35213538 |
None Available | GCST90239670 | Non-HDL cholesterol levels | 1,320,016 European ancestry individuals | C | 0.562613 | 2E-13 | 12.699 | rs56113850 | 0.014895 | non-high density lipoprotein cholesterol measurement (EFO:0005689) |
PMID:34887591 |
None Available | GCST90093036 | Phospholipid levels in very small VLDL | 115,082 European ancestry individuals | T | 0.420796 | 1E-8 | 8 | rs56113850 | 0.0234529 | obsolete_vldl cholesterol measurement (EFO:0008317) phospholipid measurement (EFO:0004639) |
PMID:35213538 |
GWAS1355332_H | GCST90092964 | Phospholipid levels in small LDL | 115,082 European ancestry individuals | T | 0.420796 | 4E-9 | 8.398 | rs56113850 | 0.0243826 | low density lipoprotein cholesterol measurement (EFO:0004611) phospholipid measurement (EFO:0004639) |
PMID:35213538 |
GWAS1355743_H | GCST90093035 | Concentration of very small VLDL particles | 115,082 European ancestry individuals | T | 0.420796 | 7E-9 | 8.155 | rs56113850 | 0.0238214 | obsolete_vldl cholesterol measurement (EFO:0008317) |
PMID:35213538 |
None Available | GCST90093032 | Free cholesterol levels in very small VLDL | 115,082 European ancestry individuals | T | 0.420796 | 2E-8 | 7.699 | rs56113850 | 0.0231331 | free cholesterol measurement (EFO:0008591) obsolete_vldl cholesterol measurement (EFO:0008317) |
PMID:35213538 |
None Available | GCST90094735 | F-chocolate/coffee liking (derived food-liking factor) | 158,905 European ancestry individuals | C | 0.5774 | 1E-9 | 9 | rs56113850 | 0.090892 | taste liking measurement (EFO:0010155) |
PMID:35585065 |
GWAS1363428_H | GCST90239655 | Low density lipoprotein cholesterol levels | 40,963 South Asian ancestry individuals, 48,057 Hispanic individuals, 99,432 Admixed African or African ancestry individuals, 146,492 East Asian ancestry individuals, 1,320,016 European ancestry individuals | ? | NR | 3E-17 | 16.523 | rs56113850 | N/A | low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:34887591 |
None Available | GCST90134662 | Lung adenocarcinoma | 9,791 European ancestry cases, 23,173 European ancestry controls, 4,630 East Asian ancestry cases, 5,372 East Asian ancestry controls, 844 African American cases, 3,774 African American controls | ? | NR | 8E-11 | 10.097 | rs56113850 | 0.07 | lung adenocarcinoma (EFO:0000571) |
PMID:35915169 |
GWAS1364041_H | GCST90134663 | Squamous cell lung carcinoma | 6,107 European ancestry cases, 23,173 European ancestry controls, 1,292 East Asian ancestry cases, 5,372 East Asian ancestry controls, 451 African American cases, 3,774 African American controls | ? | NR | 3E-11 | 10.523 | rs56113850 | 0.09 | squamous cell lung carcinoma (EFO:0000708) |
PMID:35915169 |
GWAS1365651_H | GCST90134661 | Lung cancer | 26,683 European ancestry cases, 25,278 European ancestry controls, 7,062 East Asian ancestry cases, 5,372 East Asian ancestry controls, 1,987 African American cases, 3,774 African American controls | ? | NR | 8E-27 | 26.097 | rs56113850 | 0.08 | lung carcinoma (EFO:0001071) |
PMID:35915169 |
GWAS1371220_H | GCST90132984 | Coffee consumption (cups per day) | 448,204 European ancestry individuals | T | 0.422202 | 8E-19 | 18.097 | rs56113850 | 0.0186901 | coffee consumption measurement (EFO:0006781) |
PMID:32193382 |
GWAS1374561_H | GCST90140773 | Indolin-2-one levels | 6,136 Finnish ancestry individuals | C | NR | 7E-15 | 14.155 | rs56113850 | 0.17 | indolin-2-one measurement (EFO:0800981) |
PMID:35347128 |
GWAS1374566_H | GCST90140807 | 6-hydroxyindole sulfate levels | 6,136 Finnish ancestry individuals | C | NR | 2E-11 | 10.699 | rs56113850 | 0.12 | 6-hydroxyindole sulfate measurement (EFO:0801004) |
PMID:35347128 |
None Available | GCST90140661 | Theobromine levels | 6,136 Finnish ancestry individuals | C | NR | 3E-12 | 11.523 | rs56113850 | 0.13 | theobromine measurement (EFO:0021179) |
PMID:35347128 |
None Available | GCST90140662 | Paraxanthine levels | 6,136 Finnish ancestry individuals | C | NR | 2E-19 | 18.699 | rs56113850 | 0.17 | paraxanthine measurement (EFO:0021178) |
PMID:35347128 |
GWAS1375693_H | GCST90140675 | 3-methylxanthine levels | 6,136 Finnish ancestry individuals | C | NR | 9E-18 | 17.046 | rs56113850 | 0.16 | 3-methylxanthine measurement (EFO:0021175) |
PMID:35347128 |
GWAS1377089_H | GCST90140391 | X-12216 levels | 6,136 Finnish ancestry individuals | C | NR | 3E-15 | 14.523 | rs56113850 | 0.15 | X-12216 measurement (EFO:0021294) |
PMID:35347128 |
None Available | GCST90092810 | Ratio of apolipoprotein B to apolipoprotein A1 levels | 115,082 European ancestry individuals | T | 0.420796 | 3E-8 | 7.523 | rs56113850 | 0.0227187 | apolipoprotein A 1 measurement (EFO:0004614) apolipoprotein B measurement (EFO:0004615) |
PMID:35213538 |
GWAS1403539_H | GCST90100220 | Estimated glomerular filtration rate (creatinine) | 1,205,871 European ancestry individuals, 168,300 East Asian ancestry individuals, 63,553 African ancestry individuals, 23,509 Hispanic or Latin American individuals, 22,103 African American individuals, 21,791 Central Asian or South Asian ancestry individuals, 1,502 Middle Eastern ancestry individuals, 939 other admixed ancestry individuals, 602 Native American ancestry individuals, 150 Asian ancestry individuals, 339 individuals | C | 0.5599 | 9E-13 | 12.046 | rs56113850 | 7.151 | obsolete_glomerular filtration rate (EFO:0005208) |
PMID:35710981 |
GWAS1408320_H | GCST90266536 | Urine X-21831 levels in chronic kidney disease | 4,599 European ancestry individuals | C | 0.59 | 8E-31 | 30.097 | rs56113850 | 0.469 | X-21831 measurement (EFO:0800832) |
PMID:37277652 |
GWAS1409088_H | GCST90266210 | Urine X-12126 levels in chronic kidney disease | 4,891 European ancestry individuals | C | 0.58 | 3E-14 | 13.523 | rs56113850 | 0.189 | X-12126 measurement (EFO:0800708) |
PMID:37277652 |
None Available | GCST90266218 | Plasma X-12216 levels in chronic kidney disease | 4,797 European ancestry individuals | C | 0.59 | 8E-12 | 11.097 | rs56113850 | 0.173 | X-12216 measurement (EFO:0021294) |
PMID:37277652 |
GWAS1409168_H | GCST90266467 | Urine X-18935 levels in chronic kidney disease | 4,893 European ancestry individuals | C | 0.58 | 1E-29 | 29 | rs56113850 | 0.294 | X-18935 measurement (EFO:0800798) |
PMID:37277652 |
GWAS1412597_H | GCST90245663 | X-21286 levels | 14,296 European ancestry individuals | T | 0.4289 | 7E-38 | 37.155 | rs56113850 | 0.13240077 | X-21286 measurement (EFO:0800804) |
PMID:36357675 |
None Available | GCST90245023 | 3-hydroxycotinine glucuronide levels | 14,296 European ancestry individuals | T | 0.4184 | 3E-15 | 14.523 | rs56113850 | 0.26954755 | 3-hydroxycotinine glucuronide measurement (EFO:0800984) |
PMID:36357675 |
GWAS1414446_H | GCST90245527 | X-12126 levels | 14,296 European ancestry individuals | T | 0.4165 | 6E-26 | 25.222 | rs56113850 | 0.1277143 | X-12126 measurement (EFO:0800708) |
PMID:36357675 |
GWAS1415161_H | GCST90245264 | Indolin-2-one levels | 14,296 European ancestry individuals | T | 0.4373 | 1E-30 | 30 | rs56113850 | 0.1445022 | indolin-2-one measurement (EFO:0800981) |
PMID:36357675 |
GWAS1417167_H | GCST90245533 | X-12216 levels | 14,296 European ancestry individuals | T | 0.4278 | 7E-35 | 34.155 | rs56113850 | 0.1274714 | X-12216 measurement (EFO:0021294) |
PMID:36357675 |
GWAS1417546_H | GCST90245453 | Theobromine levels | 14,296 European ancestry individuals | T | 0.4286 | 8E-20 | 19.097 | rs56113850 | 0.09372097 | theobromine measurement (EFO:0021179) |
PMID:36357675 |
GWAS1417981_H | GCST90244877 | 1,7-dimethylurate levels | 14,296 European ancestry individuals | T | 0.4287 | 3E-24 | 23.523 | rs56113850 | 0.10510567 | 1,7-dimethylurate measurement (EFO:0021512) |
PMID:36357675 |
GWAS1419401_H | GCST90239667 | Non-HDL cholesterol levels | 40,963 South Asian ancestry individuals, 48,057 Hispanic individuals, 99,432 Admixed African or African ancestry individuals, 146,492 East Asian ancestry individuals, 1,320,016 European ancestry individuals | ? | NR | 2E-14 | 13.699 | rs56113850 | N/A | non-high density lipoprotein cholesterol measurement (EFO:0005689) |
PMID:34887591 |
GWAS1419596_H | GCST90245043 | 3-methylxanthine levels | 14,296 European ancestry individuals | T | 0.4288 | 3E-44 | 43.523 | rs56113850 | 0.14389715 | 3-methylxanthine measurement (EFO:0021175) |
PMID:36357675 |
GWAS1420018_H | GCST90245365 | Paraxanthine levels | 14,296 European ancestry individuals | T | 0.4292 | 1E-26 | 26 | rs56113850 | 0.11057526 | paraxanthine measurement (EFO:0021178) |
PMID:36357675 |
GWAS1420475_H | GCST90239658 | Low density lipoprotein cholesterol levels | 1,320,016 European ancestry individuals | C | 0.567435 | 2E-16 | 15.699 | rs56113850 | 0.0142152 | low density lipoprotein cholesterol measurement (EFO:0004611) |
PMID:34887591 |
GWAS1425804_H | GCST90300043 | Metabolite levels (hydroxycotinine) | 2,414 European, Hispanic or African American individuals | C | 0.5489 | 2E-12 | 11.699 | rs56113850 | 0.2 | hydroxycotinine measurement (EFO:0800964) |
PMID:37253714 |
GWAS1428703_H | GCST90243976 | Cigarettes smoked per day | 618,489 European ancestry individuals | C | 0.565 | 6E-207 | 206.222 | rs56113850 | 0.0557 | cigarettes per day measurement (EFO:0006525) |
PMID:36477530 |
GWAS1429826_H | GCST90243980 | Smoking cessation | 1,147,272 European ancestry individuals | C | 0.572 | 5E-114 | 113.302 | rs56113850 | 0.0303 | smoking cessation (EFO:0004319) |
PMID:36477530 |
None Available | GCST90179146 | C-reactive protein levels (MTAG) | 575,531 European ancestry individuals | T | NR | 8E-16 | 15.097 | rs56113850 | 0.01645 | C-reactive protein measurement (EFO:0004458) |
PMID:36376304 |
GWAS1437115_H | GCST90428729 | Alanine aminotransferase levels | 1,010,710 European ancestry individuals | T | NR | 6E-18 | 17.222 | rs56113850 | 0.0034 | serum alanine aminotransferase measurement (EFO:0004735) |
PMID:38632349 |
RGD Curation Notes
Note Type | Note | Reference |
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