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: rs180177035
rs180177035
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
dbSNP: rs387907144
rs387907144
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs1562846694
rs1562846694
32 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs312262717
rs312262717
18 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
dbSNP: rs587777893
rs587777893
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs672601368
rs672601368
10 0.827 0.160 2 240785062 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057516030
rs1057516030
14 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
dbSNP: rs1057518934
rs1057518934
8 0.851 0.240 15 28211095 frameshift variant G/- delins 0.700 0
dbSNP: rs1057518963
rs1057518963
6 0.851 0.200 X 68210239 missense variant A/G snv 0.700 0
dbSNP: rs1057519439
rs1057519439
5 1.000 0.120 2 195787135 missense variant A/G snv 0.700 0
dbSNP: rs1114167295
rs1114167295
6 0.827 0.160 X 54812169 frameshift variant C/- del 0.700 0
dbSNP: rs1114167296
rs1114167296
6 0.827 0.160 X 34656995 missense variant C/G snv 0.700 0
dbSNP: rs1114167297
rs1114167297
5 0.851 0.160 10 32019912 missense variant T/C snv 0.700 0
dbSNP: rs1114167298
rs1114167298
5 0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs1131692230
rs1131692230
9 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0
dbSNP: rs114925667
rs114925667
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs1172486173
rs1172486173
11 0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1223073957
rs1223073957
12 0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs142239530
rs142239530
24 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
dbSNP: rs146539065
rs146539065
34 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs1553212868
rs1553212868
17 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
dbSNP: rs1553770577
rs1553770577
37 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
dbSNP: rs1554603293
rs1554603293
17 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
dbSNP: rs1555038029
rs1555038029
12 0.776 0.400 11 118477973 stop gained C/A snv 0.700 0
dbSNP: rs1555454508
rs1555454508
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0