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 0.983 176 2004 2020
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.800 0.983 176 2004 2020
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.800 0.983 176 2004 2020
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 30 2002 2019
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.800 1.000 19 2002 2019
dbSNP: rs11080466
rs11080466
1 1.000 0.080 18 10899030 intron variant A/G snv 0.31 0.800 1.000 1 2012 2012
dbSNP: rs11622887
rs11622887
2 1.000 0.080 14 95476110 upstream gene variant A/C snv 0.52 0.800 1.000 1 2014 2014
dbSNP: rs13398721
rs13398721
2 1.000 0.080 2 19429543 intergenic variant T/C snv 0.21 0.800 1.000 1 2014 2014
dbSNP: rs1571228
rs1571228
1 1.000 0.080 9 18930224 intron variant G/A snv 0.83 0.800 1.000 1 2013 2013
dbSNP: rs16950650
rs16950650
2 1.000 0.080 13 95123178 intron variant C/T snv 4.7E-02 0.800 1.000 1 2014 2014
dbSNP: rs17635492
rs17635492
2 1.000 0.080 6 117450114 intron variant A/T snv 2.4E-02 0.800 1.000 1 2014 2014
dbSNP: rs2018683
rs2018683
2 1.000 0.080 7 28974579 intergenic variant G/A;T snv 0.800 1.000 1 2014 2014
dbSNP: rs2131877
rs2131877
6 0.827 0.080 3 195137645 intron variant G/A snv 0.20 0.800 1.000 1 2010 2010
dbSNP: rs344924
rs344924
2 1.000 0.080 1 67639770 intergenic variant A/G snv 0.17 0.800 1.000 1 2014 2014
dbSNP: rs7186128
rs7186128
2 1.000 0.080 16 16864058 intergenic variant G/A snv 0.70 0.800 1.000 1 2014 2014
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.790 1.000 26 2002 2019
dbSNP: rs28929495
rs28929495
9 0.807 0.120 7 55174014 missense variant G/A;C;T snv 0.750 1.000 21 2004 2019
dbSNP: rs121913444
rs121913444
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.750 1.000 11 2004 2020
dbSNP: rs121913428
rs121913428
6 0.827 0.120 7 55174015 missense variant G/A;C snv 0.740 1.000 21 1990 2019
dbSNP: rs121913465
rs121913465
11 0.763 0.160 7 55181312 missense variant G/T snv 0.740 1.000 11 2004 2018
dbSNP: rs397517108
rs397517108
9 0.790 0.120 7 55181312 missense variant GC/TT mnv 0.740 1.000 10 2004 2018
dbSNP: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.730 0.750 4 2013 2019
dbSNP: rs17851045
rs17851045
27 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.720 1.000 5 2002 2018
dbSNP: rs1057519729
rs1057519729
6 0.827 0.080 15 66435113 missense variant A/C snv 0.720 1.000 4 1995 2016
dbSNP: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.720 1.000 3 2002 2019