Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28934575
rs28934575
37 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 0
dbSNP: rs143752852
rs143752852
1 3 49902723 missense variant A/G snv 8.8E-05 5.6E-05 0.010 1.000 1 2000 2000
dbSNP: rs199769221
rs199769221
8 0.790 0.280 7 142751920 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 0.010 < 0.001 1 2000 2000
dbSNP: rs542027040
rs542027040
1 17 39724864 missense variant C/T snv 1.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs967461896
rs967461896
17 0.724 0.240 17 7675086 missense variant A/C;G;T snv 0.010 1.000 1 2000 2000
dbSNP: rs1443465532
rs1443465532
6 0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs876658657
rs876658657
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.100 0.941 34 2005 2020
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.100 0.941 34 2005 2020
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.100 0.941 34 2005 2020
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2005 2010
dbSNP: rs125555
rs125555
4 0.882 0.080 18 50273809 missense variant G/A;C snv 3.6E-05; 0.19 0.010 1.000 1 2005 2005
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2005 2005
dbSNP: rs33917957
rs33917957
MET
10 0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs587782289
rs587782289
15 0.752 0.240 17 7674257 missense variant A/C;G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs746702110
rs746702110
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs8305
rs8305
4 0.882 0.120 18 54294435 missense variant G/A snv 0.72 0.78 0.010 1.000 1 2005 2005
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 20 2006 2019
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 0.950 20 2006 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 20 2006 2019
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.050 1.000 5 2006 2019
dbSNP: rs1164376164
rs1164376164
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.020 0.500 2 2006 2008
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2006 2006
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2006 2006
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2006 2006