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: rs149617956
rs149617956
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 4 2011 2016
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: 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: rs864309486
rs864309486
21 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1057518864
rs1057518864
7 0.925 18 55350409 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1057518872
rs1057518872
5 0.882 0.160 6 121447287 missense variant T/C snv 0.700 0
dbSNP: rs1057518913
rs1057518913
7 0.851 0.320 9 137762822 splice donor variant T/C snv 0.700 0
dbSNP: rs1057519389
rs1057519389
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1164484724
rs1164484724
13 0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1276519904
rs1276519904
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs1352010373
rs1352010373
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1400419650
rs1400419650
38 0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1554032789
rs1554032789
13 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
dbSNP: rs1555154946
rs1555154946
16 0.827 0.120 12 45850644 stop gained C/T snv 0.700 0
dbSNP: rs1555386022
rs1555386022
38 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
dbSNP: rs200661329
rs200661329
48 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
dbSNP: rs387907260
rs387907260
22 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs397516827
rs397516827
9 0.882 0.160 3 12604194 missense variant G/A;C;T snv 0.700 0
dbSNP: rs397517148
rs397517148
27 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
dbSNP: rs397517154
rs397517154
16 0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0
dbSNP: rs61750420
rs61750420
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
dbSNP: rs66527965
rs66527965
31 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0