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: rs121918455
rs121918455
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 1.000 4 2002 2009
dbSNP: rs121908557
rs121908557
23 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
dbSNP: rs28933386
rs28933386
15 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2001 2006
dbSNP: rs1034395178
rs1034395178
33 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1135401744
rs1135401744
14 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs587777893
rs587777893
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs779027563
rs779027563
58 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs793888541
rs793888541
7 0.807 0.120 6 10404631 missense variant A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1057518914
rs1057518914
14 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
dbSNP: rs1057519334
rs1057519334
7 0.925 0.040 9 35802550 frameshift variant C/- del 0.700 0
dbSNP: rs1057519946
rs1057519946
18 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 0
dbSNP: rs112795301
rs112795301
13 0.776 0.160 3 70972634 stop gained G/A snv 0.700 0
dbSNP: rs121908425
rs121908425
14 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
dbSNP: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs121918494
rs121918494
25 0.790 0.160 10 121517363 missense variant G/C snv 0.700 0
dbSNP: rs1276519904
rs1276519904
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs1364709483
rs1364709483
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
dbSNP: rs1553525325
rs1553525325
9 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
dbSNP: rs1554110735
rs1554110735
13 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0
dbSNP: rs1554196416
rs1554196416
15 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
dbSNP: rs1554199368
rs1554199368
12 0.827 0.160 5 177256956 missense variant C/T snv 0.700 0
dbSNP: rs1554603293
rs1554603293
17 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
dbSNP: rs1554691658
rs1554691658
11 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 0.700 0
dbSNP: rs1554700718
rs1554700718
59 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0