Source: CURATED ×
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: rs1057518658
rs1057518658
1 1.000 0.040 2 165331409 frameshift variant AC/- del 0.700 0
dbSNP: rs1057518993
rs1057518993
1 1.000 0.040 X 53243367 stop gained G/A snv 0.700 0
dbSNP: rs1057518999
rs1057518999
1 1.000 0.040 3 70977826 splice donor variant A/G snv 0.700 0
dbSNP: rs1057519440
rs1057519440
3 1.000 0.040 X 51744647 missense variant G/A snv 0.700 0
dbSNP: rs1057521223
rs1057521223
5 1.000 0.040 2 165373339 stop gained G/A;T snv 0.700 0
dbSNP: rs1060499733
rs1060499733
11 0.851 0.120 3 47846757 missense variant A/G snv 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: rs113871094
rs113871094
34 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
dbSNP: rs12877501
rs12877501
4 0.925 0.160 13 110512039 missense variant G/A;C snv 5.0E-04 0.700 0
dbSNP: rs1331463984
rs1331463984
33 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
dbSNP: rs148881970
rs148881970
22 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 0.700 0
dbSNP: rs1553920379
rs1553920379
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs1554210073
rs1554210073
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs1555565492
rs1555565492
18 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
dbSNP: rs1555640521
rs1555640521
15 0.790 0.320 18 6942110 frameshift variant A/- delins 0.700 0
dbSNP: rs1555740394
rs1555740394
5 0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins 0.700 0
dbSNP: rs1555740650
rs1555740650
13 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
dbSNP: rs1555741826
rs1555741826
16 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
dbSNP: rs1556425596
rs1556425596
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs1558373252
rs1558373252
19 0.790 0.120 2 5693013 frameshift variant T/- delins 0.700 0
dbSNP: rs1559619762
rs1559619762
2 1.000 0.040 3 70977827 splice donor variant C/G snv 0.700 0
dbSNP: rs1562114190
rs1562114190
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs1562127631
rs1562127631
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0