Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		G 0.900 GeneticVariation GWASCAT A common variant on chromosome 9p21 affects the risk of myocardial infarction. 17478679

2007
dbSNP: rs10033464
rs10033464
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		T 0.900 GeneticVariation GWASCAT Variants conferring risk of atrial fibrillation on chromosome 4q25. 17603472

2007
dbSNP: rs3135388
rs3135388
HLA-DRA
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		A 0.890 GeneticVariation GWASCAT Risk alleles for multiple sclerosis identified by a genomewide study. 17660530

2007
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.890 GeneticVariation GWASCAT Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. 17618283

2007
dbSNP: rs7517847
rs7517847
IL23R ; C1orf141
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.880 GeneticVariation GWASCAT Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756

2007
dbSNP: rs2542151
rs2542151
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		G 0.880 GeneticVariation GWASCAT Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300

2007
dbSNP: rs2542151
rs2542151
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.880 GeneticVariation GWASCAT Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. 17554261

2007
dbSNP: rs10499194
rs10499194
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		C 0.880 GeneticVariation GWASCAT Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. 17982456

2007
dbSNP: rs4506565
rs4506565
TCF7L2
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.870 GeneticVariation GWASCAT Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300

2007
dbSNP: rs3761847
rs3761847
TRAF1
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		G 0.870 GeneticVariation GWASCAT TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836

2007
dbSNP: rs5215
rs5215
KCNJ11
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.860 GeneticVariation GWASCAT Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. 17463249

2007
dbSNP: rs1004819
rs1004819
IL23R ; C1orf141
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.860 GeneticVariation GWASCAT Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789

2007
dbSNP: rs599839
rs599839
PSRC1
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		A 0.850 GeneticVariation GWASCAT The combined analysis of the two studies identified four additional loci significantly associated with coronary artery disease (P<1.3x10(-6)) and a high probability (>80%) of a true association: chromosomes 1p13.3 (rs599839), 1q41 (rs17465637), 10q11.21 (rs501120), and 15q22.33 (rs17228212). 17634449

2007
dbSNP: rs2201841
rs2201841
IL23R ; C1orf141
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.850 GeneticVariation GWASCAT Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789

2007
dbSNP: rs13361189
rs13361189
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.850 GeneticVariation GWASCAT Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. 17554261

2007
dbSNP: rs12722489
rs12722489
IL2RA
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		C 0.850 GeneticVariation GWASCAT Risk alleles for multiple sclerosis identified by a genomewide study. 17660530

2007
dbSNP: rs10889677
rs10889677
IL23R
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.850 GeneticVariation GWASCAT Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789

2007
dbSNP: rs9300039
rs9300039
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.840 GeneticVariation GWASCAT A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. 17463248

2007
dbSNP: rs6822844
rs6822844
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		G 0.840 GeneticVariation GWASCAT We independently confirmed association in two further collections (strongest association at rs6822844, 24 kb 5' of IL21; meta-analysis P = 1.3 x 10(-14), odds ratio = 0.63), suggesting that genetic variation in this region predisposes to celiac disease. 17558408

2007
dbSNP: rs501120
rs501120
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		T 0.840 GeneticVariation GWASCAT The combined analysis of the two studies identified four additional loci significantly associated with coronary artery disease (P<1.3x10(-6)) and a high probability (>80%) of a true association: chromosomes 1p13.3 (rs599839), 1q41 (rs17465637), 10q11.21 (rs501120), and 15q22.33 (rs17228212). 17634449

2007
dbSNP: rs2903692
rs2903692
CLEC16A
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		G 0.840 GeneticVariation GWASCAT Three common non-coding variants of the gene (rs2903692, rs725613 and rs17673553) in strong linkage disequilibrium reached genome-wide significance for association with T1D. 17632545

2007
dbSNP: rs17465637
rs17465637
MIA3
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		C 0.840 GeneticVariation GWASCAT The combined analysis of the two studies identified four additional loci significantly associated with coronary artery disease (P<1.3x10(-6)) and a high probability (>80%) of a true association: chromosomes 1p13.3 (rs599839), 1q41 (rs17465637), 10q11.21 (rs501120), and 15q22.33 (rs17228212). 17634449

2007
dbSNP: rs1121980
rs1121980
FTO
CUI: C0028754
Disease: Obesity
Obesity 		T 0.840 GeneticVariation GWASCAT Six single nucleotide polymorphisms (SNPs) in FTO (fat mass and obesity associated gene) within one linkage disequilibrium (LD) block including the GWA SNP rendering the lowest p-value (rs1121980; log-additive model: nominal p = 1.13 x 10(-7), corrected p = 0.0494; odds ratio (OR)(CT) 1.67, 95% confidence interval (CI) 1.22-2.27; OR(TT) 2.76, 95% CI 1.88-4.03) belonged to the 15 SNPs showing the strongest evidence for association with obesity. 18159244

2007
dbSNP: rs1000113
rs1000113
IRGM
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		T 0.840 GeneticVariation GWASCAT Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300

2007
dbSNP: rs9465871
rs9465871
CDKAL1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.830 GeneticVariation GWASCAT Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300

2007