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: rs1057518787
rs1057518787
3 0.925 0.200 X 9765782 frameshift variant CAGCAGAAGGTCCCTAGGCGCGGGG/- delins 0.700 0
dbSNP: rs1057518802
rs1057518802
4 0.882 0.080 21 45509554 stop gained C/T snv 0.700 0
dbSNP: rs1057518822
rs1057518822
4 1.000 0.080 12 88102888 stop gained G/A snv 0.700 0
dbSNP: rs1057518836
rs1057518836
4 0.882 0.120 X 43949887 missense variant G/A snv 0.700 0
dbSNP: rs1057518843
rs1057518843
19 0.790 0.240 14 87988523 missense variant C/T snv 0.700 0
dbSNP: rs1057518963
rs1057518963
6 0.851 0.200 X 68210239 missense variant A/G snv 0.700 0
dbSNP: rs1085307993
rs1085307993
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs1114167290
rs1114167290
5 0.882 0.080 15 52340235 missense variant G/C snv 0.700 0
dbSNP: rs1114167292
rs1114167292
6 0.882 0.080 3 197704686 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs1135402761
rs1135402761
11 0.827 0.320 12 79448958 missense variant T/C 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: rs1217391623
rs1217391623
11 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0
dbSNP: rs121907922
rs121907922
12 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
dbSNP: rs1276519904
rs1276519904
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs1345176461
rs1345176461
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs137852834
rs137852834
13 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
dbSNP: rs137853105
rs137853105
4 0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 0.700 0
dbSNP: rs138504221
rs138504221
9 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 0.700 0
dbSNP: rs142285818
rs142285818
RHO
11 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
dbSNP: rs144078282
rs144078282
9 0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04 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: rs1488635637
rs1488635637
6 0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06 0.700 0
dbSNP: rs150726175
rs150726175
11 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.700 0
dbSNP: rs1553281318
rs1553281318
7 0.882 0.120 1 226986536 frameshift variant -/A delins 0.700 0
dbSNP: rs1554110735
rs1554110735
13 0.776 0.200 6 10398693 frameshift variant TT/- delins 0.700 0