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: rs387907144
rs387907144
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs1114167291
rs1114167291
10 0.790 0.280 16 89281225 stop gained C/A snv 0.700 0
dbSNP: rs149830411
rs149830411
15 0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 0.700 0
dbSNP: rs1564421528
rs1564421528
WAC
16 0.882 0.080 10 28614666 stop gained C/T snv 0.700 0
dbSNP: rs1057516044
rs1057516044
9 0.851 0.240 12 21913005 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1554333853
rs1554333853
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1064796765
rs1064796765
19 0.763 0.240 14 102002950 missense variant G/A snv 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: rs121918459
rs121918459
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1331463984
rs1331463984
33 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
dbSNP: rs138632121
rs138632121
13 0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04 0.700 0
dbSNP: rs1554208945
rs1554208945
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs1557036768
rs1557036768
44 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
dbSNP: rs1567010427
rs1567010427
11 0.882 14 102010824 missense variant G/A snv 0.700 0
dbSNP: rs199473457
rs199473457
12 0.827 0.200 11 2572020 missense variant C/A;T snv 0.700 0
dbSNP: rs200426926
rs200426926
13 0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 0.700 0
dbSNP: rs397517148
rs397517148
27 0.776 0.200 2 39023128 missense variant C/T snv 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: rs542652468
rs542652468
6 0.882 19 41986177 missense variant G/A;T snv 0.700 0
dbSNP: rs886039469
rs886039469
35 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
dbSNP: rs886041095
rs886041095
11 0.827 0.160 12 13571930 missense variant C/T snv 0.700 0
dbSNP: rs1064794254
rs1064794254
6 0.851 0.120 X 119841185 frameshift variant CT/- delins 0.700 1.000 3 2007 2012
dbSNP: rs1057516049
rs1057516049
7 0.851 0.040 8 41933963 frameshift variant CACT/- delins 0.700 0
dbSNP: rs1131692229
rs1131692229
11 0.851 0.120 2 8730956 frameshift variant GT/- delins 0.700 0
dbSNP: rs1554110735
rs1554110735
13 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0