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: 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: 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: 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: 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: rs4363506
rs4363506
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.810 GeneticVariation GWASCAT Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. 17362836

2007
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		G 0.800 GeneticVariation GWASCAT A combined analysis with four additional studies (total: 4,296 cases and 4,299 controls) confirms association with prostate cancer for rs6983267 in the centromeric locus (P = 9.42 x 10(-13); heterozygote odds ratio (OR): 1.26, 95% confidence interval (c.i.): 1.13-1.41; homozygote OR: 1.58, 95% c.i.: 1.40-1.78). 17401363

2007
dbSNP: rs1447295
rs1447295
CASC8
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		A 0.800 GeneticVariation GWASCAT Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. 17401363

2007
dbSNP: rs16901979
rs16901979
PCAT1 ; CASC19
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		A 0.800 GeneticVariation GWASCAT Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. 17401366

2007
dbSNP: rs1447295
rs1447295
CASC8
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		A 0.800 GeneticVariation GWASCAT Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. 17401366

2007
dbSNP: rs7825414
rs7825414
PCAT1
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. 17401366

2007
dbSNP: rs7816535
rs7816535
PCAT1 ; CASC19
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. 17401366

2007
dbSNP: rs6994316
rs6994316
PCAT1 ; PCAT2
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. 17401366

2007
dbSNP: rs6993569
rs6993569
PCAT1
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. 17401366

2007
dbSNP: rs6470494
rs6470494
PCAT1 ; CASC19 ; PCAT2
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. 17401366

2007
dbSNP: rs17831626
rs17831626
PCAT1
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. 17401366

2007
dbSNP: rs1551510
rs1551510
PCAT1 ; PRNCR1 ; CASC19 ; PCAT2
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. 17401366

2007
dbSNP: rs1456314
rs1456314
PCAT1
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. 17401366

2007
dbSNP: rs1456306
rs1456306
PCAT1 ; CASC19
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		C 0.700 GeneticVariation GWASCAT Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. 17401366

2007
dbSNP: rs1456305
rs1456305
PCAT1 ; CASC19
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. 17401366

2007
dbSNP: rs1378897
rs1378897
PCAT1 ; CASC19
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. 17401366

2007
dbSNP: rs1031588
rs1031588
PCAT1 ; PRNCR1 ; CASC19 ; PCAT2
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. 17401366

2007
dbSNP: rs1016343
rs1016343
PCAT1 ; PRNCR1 ; CASC19 ; PCAT2
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. 17401366

2007
dbSNP: rs1016342
rs1016342
PCAT1 ; PRNCR1 ; CASC19 ; PCAT2
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		C 0.700 GeneticVariation GWASCAT Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. 17401366

2007