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: rs1057518345
rs1057518345
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
dbSNP: rs1057518781
rs1057518781
7 0.925 0.120 19 7527961 splice donor variant G/A;C snv 0.700 0
dbSNP: rs1057518782
rs1057518782
7 0.925 0.120 19 7526579 stop gained C/G;T snv 0.700 0
dbSNP: rs1057518817
rs1057518817
4 1.000 0.080 9 35805944 frameshift variant GTGGTCCTTTC/- del 0.700 0
dbSNP: rs1085307845
rs1085307845
21 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
dbSNP: rs1085307993
rs1085307993
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs1135402758
rs1135402758
5 1.000 9 131199023 intron variant T/- delins 0.700 0
dbSNP: rs113871094
rs113871094
34 0.683 0.320 15 48465820 stop gained G/A 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: rs1426488816
rs1426488816
9 0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06 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: rs150681845
rs150681845
2 1.000 0.080 4 127687772 missense variant G/A snv 2.6E-03 1.8E-03 0.700 0
dbSNP: rs1553655558
rs1553655558
43 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
dbSNP: rs1554032789
rs1554032789
13 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
dbSNP: rs1555377415
rs1555377415
18 0.827 0.200 14 77027274 stop gained G/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: rs1555743003
rs1555743003
58 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1557036768
rs1557036768
44 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
dbSNP: rs1557781252
rs1557781252
33 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
dbSNP: rs1569518070
rs1569518070
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
dbSNP: rs372392424
rs372392424
8 0.882 0.240 4 523849 missense variant C/T snv 6.7E-05 7.7E-05 0.700 0
dbSNP: rs550423482
rs550423482
6 0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05 0.700 0
dbSNP: rs587779388
rs587779388
5 1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 0.700 1.000 3 2011 2012