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 0.100 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: 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: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.050 1.000 5 2006 2019
dbSNP: rs121913444
rs121913444
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.020 1.000 2 2013 2014
dbSNP: rs121913465
rs121913465
11 0.763 0.160 7 55181312 missense variant G/T snv 0.010 1.000 1 2017 2017
dbSNP: rs146795390
rs146795390
8 0.827 0.080 7 55191776 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs150423237
rs150423237
1 7 55173087 missense variant G/A snv 2.1E-04 2.4E-04 0.010 1.000 1 2017 2017
dbSNP: rs2227983
rs2227983
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs28929495
rs28929495
9 0.807 0.120 7 55174014 missense variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs373129709
rs373129709
7 0.827 0.120 7 55019338 missense variant G/A;T snv 1.1E-04 0.010 1.000 1 2007 2007
dbSNP: rs397517108
rs397517108
9 0.790 0.120 7 55181312 missense variant GC/TT mnv 0.010 1.000 1 2017 2017