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: rs11555217
rs11555217
5 0.882 0.160 11 71441401 stop gained C/G;T snv 7.7E-04 0.700 0
dbSNP: rs119473033
rs119473033
11 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 0
dbSNP: rs1559931177
rs1559931177
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
dbSNP: rs199469465
rs199469465
50 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
dbSNP: rs373145711
rs373145711
25 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs748106387
rs748106387
9 0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs912001256
rs912001256
17 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
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: rs151344517
rs151344517
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1554333853
rs1554333853
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1009298200
rs1009298200
34 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1057518843
rs1057518843
19 0.790 0.240 14 87988523 missense variant C/T snv 0.700 0
dbSNP: rs121913482
rs121913482
45 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
dbSNP: rs1344172059
rs1344172059
12 0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs141322087
rs141322087
13 0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1441937959
rs1441937959
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs1554199368
rs1554199368
12 0.827 0.160 5 177256956 missense variant C/T snv 0.700 0
dbSNP: rs1555452127
rs1555452127
34 0.742 0.400 16 5079078 missense variant T/C snv 0.700 0
dbSNP: rs1555575860
rs1555575860
31 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
dbSNP: rs1555954284
rs1555954284
24 0.752 0.360 X 41346607 missense variant C/T snv 0.700 0
dbSNP: rs1563183492
rs1563183492
32 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
dbSNP: rs377274761
rs377274761
20 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs779896782
rs779896782
5 0.882 0.160 11 71439055 missense variant A/C;G snv 8.0E-06 0.700 0
dbSNP: rs559979281
rs559979281
23 0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 0.700 0
dbSNP: rs863225422
rs863225422
23 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0