Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7754840
rs7754840
CDKAL1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.900 GeneticVariation GWASCAT A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. 17463248

2007
dbSNP: rs763361
rs763361
CD226
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		A 0.900 GeneticVariation GWASCAT Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. 17554260

2007
dbSNP: rs7216389
rs7216389
GSDMB
CUI: C0004096
Disease: Asthma
Asthma 		T 0.900 GeneticVariation GWASCAT Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. 17611496

2007
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		G 0.900 GeneticVariation GWASCAT To validate this finding, we genotyped rs6983267 in three additional CRC case-control series (4,361 affected individuals and 3,752 controls; 1,901 affected individuals and 1,079 controls; 1,072 affected individuals and 415 controls) and replicated the association, providing P = 1.27 x 10(-14) (allelic test) overall, with odds ratios (ORs) of 1.27 (95% confidence interval (c.i.): 1.16-1.39) and 1.47 (95% c.i. 17618284

2007
dbSNP: rs6920220
rs6920220
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.900 GeneticVariation GWASCAT Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. 17982456

2007
dbSNP: rs6897932
rs6897932
IL7R
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		C 0.900 GeneticVariation GWASCAT Risk alleles for multiple sclerosis identified by a genomewide study. 17660530

2007
dbSNP: rs5219
rs5219
KCNJ11
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.900 GeneticVariation GWASCAT Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. 17463246

2007
dbSNP: rs5219
rs5219
KCNJ11
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.900 GeneticVariation GWASCAT A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. 17463248

2007
dbSNP: rs4939827
rs4939827
SMAD7
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.900 GeneticVariation GWASCAT Across the four sample sets, the association between rs4939827 and CRC was highly statistically significant (P(trend) = 1.0 x 10(-12)). 17934461

2007
dbSNP: rs3825942
rs3825942
LOXL1 ; LOXL1-AS1
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		G 0.900 GeneticVariation GWASCAT Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. 17690259

2007
dbSNP: rs3803662
rs3803662
CASC16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.900 GeneticVariation GWASCAT Genome-wide association study identifies novel breast cancer susceptibility loci. 17529967

2007
dbSNP: rs3803662
rs3803662
CASC16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.900 GeneticVariation GWASCAT At present, no genes have been identified in the linkage disequilibrium block containing rs13387042. rs3803662 is near the 5' end of TNRC9 , a high mobility group chromatin-associated protein whose expression is implicated in breast cancer metastasis to bone. 17529974

2007
dbSNP: rs2373115
rs2373115
GAB2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		G 0.900 GeneticVariation GWASCAT GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. 17553421

2007
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		G 0.900 GeneticVariation GWASCAT Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 17435756

2007
dbSNP: rs2200733
rs2200733
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		T 0.900 GeneticVariation GWASCAT Variants conferring risk of atrial fibrillation on chromosome 4q25. 17603472

2007
dbSNP: rs1990760
rs1990760
IFIH1
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		A 0.900 GeneticVariation GWASCAT Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. 17554260

2007
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		C 0.900 GeneticVariation GWASCAT Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300

2007
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		C 0.900 GeneticVariation GWASCAT Of thousands of chromosomal loci studied, the same locus had the strongest association with coronary artery disease in both the WTCCC and the German studies: chromosome 9p21.3 (SNP, rs1333049) (P=1.80x10(-14) and P=3.40x10(-6), respectively). 17634449

2007
dbSNP: rs11209026
rs11209026
IL23R
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.900 GeneticVariation GWASCAT Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci. 17804789

2007
dbSNP: rs11209026
rs11209026
IL23R
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.900 GeneticVariation GWASCAT Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. 17447842

2007
dbSNP: rs1111875
rs1111875
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.900 GeneticVariation GWASCAT A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. 17463248

2007
dbSNP: rs1111875
rs1111875
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.900 GeneticVariation GWASCAT Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. 17463246

2007
dbSNP: rs10946398
rs10946398
CDKAL1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.900 GeneticVariation GWASCAT Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. 17463249

2007
dbSNP: rs10811661
rs10811661
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.900 GeneticVariation GWASCAT Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. 17463246

2007
dbSNP: rs10811661
rs10811661
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.900 GeneticVariation GWASCAT A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. 17463248

2007