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: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.800 0.983 175 2004 2020
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.800 0.983 175 2004 2020
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.800 0.983 175 2004 2020
dbSNP: rs113488022
rs113488022
484 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 29 2002 2019
dbSNP: rs121913530
rs121913530
55 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.800 1.000 12 2002 2019
dbSNP: rs121913529
rs121913529
135 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.790 1.000 9 2002 2019
dbSNP: rs121913444
rs121913444
17 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.750 1.000 5 2004 2020
dbSNP: rs28929495
rs28929495
8 0.807 0.120 7 55174014 missense variant G/A;C;T snv 0.750 1.000 5 2004 2019
dbSNP: rs121913428
rs121913428
3 0.827 0.120 7 55174015 missense variant G/A;C snv 0.740 1.000 4 1990 2019
dbSNP: rs121913465
rs121913465
9 0.763 0.160 7 55181312 missense variant G/T snv 0.740 1.000 4 2004 2018
dbSNP: rs397517108
rs397517108
9 0.790 0.120 7 55181312 missense variant GC/TT mnv 0.740 1.000 4 2004 2018
dbSNP: rs401681
rs401681
36 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.730 0.750 3 2013 2019
dbSNP: rs1057519729
rs1057519729
5 0.827 0.080 15 66435113 missense variant A/C snv 0.720 1.000 2 1995 2016
dbSNP: rs121913355
rs121913355
11 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.720 1.000 2 2002 2019
dbSNP: rs17851045
rs17851045
12 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.720 1.000 2 2002 2018
dbSNP: rs10023113
rs10023113
1 1.000 0.080 4 113625548 intron variant A/G snv 0.18 0.710 1.000 1 2015 2015
dbSNP: rs121913357
rs121913357
2 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.710 1.000 1 2002 2015
dbSNP: rs121913535
rs121913535
11 0.742 0.320 12 25245348 missense variant C/A;G;T snv 0.710 1.000 1 2002 2013
dbSNP: rs41997
rs41997
1 1.000 0.080 7 118351841 intron variant A/G snv 0.27 0.710 1.000 1 2012 2012
dbSNP: rs7086803
rs7086803
8 0.763 0.160 10 112738717 intron variant G/A snv 0.20 0.710 1.000 1 2015 2019
dbSNP: rs727504317
rs727504317
1 0.807 0.320 15 66435145 missense variant G/A snv 0.710 1.000 1 2007 2016
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 0.980 406 2005 2020
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 29 2011 2019
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.960 25 2004 2017
dbSNP: rs1057519861
rs1057519861
15 0.776 0.080 7 55181398 missense variant T/A snv 0.100 0.938 16 2015 2020