Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs380390
rs380390
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		C 0.810 GeneticVariation GWASCAT Complement factor H polymorphism in age-related macular degeneration. 15761122

2005
dbSNP: rs11200638
rs11200638
HTRA1 ; LOC105378525
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		A 0.900 GeneticVariation GWASCAT HTRA1 promoter polymorphism in wet age-related macular degeneration. 17053108

2006
dbSNP: rs2076756
rs2076756
NOD2
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.820 GeneticVariation GWASCAT A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. 17068223

2006
dbSNP: rs10494366
rs10494366
NOS1AP ; LOC105371475
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.800 GeneticVariation GWASCAT A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. 16648850

2006
dbSNP: rs4402960
rs4402960
IGF2BP2
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		T 1.000 GeneticVariation GWASCAT Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. 17463249

2007
dbSNP: rs4402960
rs4402960
IGF2BP2
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		T 1.000 GeneticVariation GWASCAT Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. 17463246

2007
dbSNP: rs4402960
rs4402960
IGF2BP2
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		T 1.000 GeneticVariation GWASCAT A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. 17463248

2007
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		A 1.000 GeneticVariation GWASCAT A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		1.000 GeneticVariation GWASCAT TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836

2007
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		T 1.000 GeneticVariation GWASCAT Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. 17554260

2007
dbSNP: rs13266634
rs13266634
SLC30A8 ; LOC105375716
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		C 1.000 GeneticVariation GWASCAT Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. 17463249

2007
dbSNP: rs13266634
rs13266634
SLC30A8 ; LOC105375716
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		C 1.000 GeneticVariation GWASCAT Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. 17463246

2007
dbSNP: rs13266634
rs13266634
SLC30A8 ; LOC105375716
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		C 1.000 GeneticVariation GWASCAT A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. 17463248

2007
dbSNP: rs13266634
rs13266634
SLC30A8 ; LOC105375716
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		C 1.000 GeneticVariation GWASCAT A genome-wide association study identifies novel risk loci for type 2 diabetes. 17293876

2007
dbSNP: rs9939609
rs9939609
FTO
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		A 0.900 GeneticVariation GWASCAT Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300

2007
dbSNP: rs8050136
rs8050136
FTO
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		A 0.900 GeneticVariation GWASCAT Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. 17463249

2007
dbSNP: rs8050136
rs8050136
FTO
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		A 0.900 GeneticVariation GWASCAT A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. 17463248

2007
dbSNP: rs7903146
rs7903146
TCF7L2
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: rs7903146
rs7903146
TCF7L2
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.900 GeneticVariation GWASCAT A genome-wide association study identifies novel risk loci for type 2 diabetes. 17293876

2007
dbSNP: rs7903146
rs7903146
TCF7L2
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		A 0.900 GeneticVariation GWASCAT Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium. 17668382

2007
dbSNP: rs7903146
rs7903146
TCF7L2
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: rs7903146
rs7903146
TCF7L2
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 GeneticVariation GWASCAT A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. 17460697

2007
dbSNP: rs7901695
rs7901695
TCF7L2
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: rs7756992
rs7756992
CDKAL1
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		G 0.900 GeneticVariation GWASCAT A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. 17460697

2007
dbSNP: rs7754840
rs7754840
CDKAL1
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