Source: GWASCAT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1799990
rs1799990
0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.900 1.000 1 1996 2015
dbSNP: rs6025
rs6025
F5
0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.740 0.400 1 1996 2016
dbSNP: rs6025
rs6025
F5
0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.900 1.000 6 1997 2019
dbSNP: rs1801282
rs1801282
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
Diabetes Mellitus, Non-Insulin-Dependent
0.900 0.902 4 1997 2018
dbSNP: rs699
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.800 0.900 1 1997 2018
dbSNP: rs757110
rs757110
0.851 0.080 11 17396930 missense variant C/A;T snv 0.64; 8.0E-06
Diabetes Mellitus, Non-Insulin-Dependent
0.790 0.900 1 1997 2018
dbSNP: rs5219
rs5219
0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
Diabetes Mellitus, Non-Insulin-Dependent
0.900 0.906 4 1998 2019
dbSNP: rs6025
rs6025
F5
0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
0.730 1.000 1 1998 2016
dbSNP: rs74315329
rs74315329
0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.800 1.000 1 1998 2019
dbSNP: rs1799963
rs1799963
F2
0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.810 1.000 1 2001 2016
dbSNP: rs1805007
rs1805007
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02
CUI: C0025202
Disease: melanoma
melanoma
0.800 0.938 1 2001 2019
dbSNP: rs2066844
rs2066844
0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 0.940 1 2001 2018
dbSNP: rs2066845
rs2066845
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
1.000 0.949 1 2001 2019
dbSNP: rs671
rs671
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.880 1.000 1 2001 2019
dbSNP: rs2066844
rs2066844
0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.790 1.000 1 2002 2017
dbSNP: rs2066845
rs2066845
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.730 0.750 1 2002 2016
dbSNP: rs2066845
rs2066845
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.800 0.846 1 2002 2018
dbSNP: rs17879961
rs17879961
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.900 0.895 2 2003 2017
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 0.963 1 2003 2019
dbSNP: rs2476601
rs2476601
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
Diabetes Mellitus, Insulin-Dependent
1.000 0.950 6 2004 2020
dbSNP: rs2476601
rs2476601
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 0.972 6 2004 2019
dbSNP: rs1229984
rs1229984
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.900 1.000 4 2004 2019
dbSNP: rs1800057
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.730 0.750 1 2004 2018
dbSNP: rs1800574
rs1800574
0.882 0.080 12 120979061 missense variant C/T snv 2.9E-02 2.2E-02
Diabetes Mellitus, Non-Insulin-Dependent
0.850 0.857 1 2004 2018
dbSNP: rs2066827
rs2066827
0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.730 0.750 1 2004 2019