Source: ALL
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: rs121909232
rs121909232
9 0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 0.700 0
dbSNP: rs121909233
rs121909233
2 1.000 0.040 10 87864524 missense variant G/A snv 0.800 0
dbSNP: rs121909234
rs121909234
1 1.000 0.040 10 87957867 missense variant G/A snv 0.800 0
dbSNP: rs121913323
rs121913323
2 1.000 0.040 19 1220416 stop gained C/T snv 0.700 0
dbSNP: rs137853080
rs137853080
2 1.000 0.040 19 1207058 missense variant T/G snv 0.800 0
dbSNP: rs137853081
rs137853081
2 1.000 0.040 19 1219352 missense variant G/C;T snv 0.800 0
dbSNP: rs180177132
rs180177132
11 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.700 0
dbSNP: rs193922219
rs193922219
9 0.763 0.280 15 48446701 splice region variant C/A;T snv 0.700 0
dbSNP: rs200476704
rs200476704
1 1.000 0.040 17 7930659 stop gained G/A;C snv 2.4E-05 0.700 0
dbSNP: rs36204594
rs36204594
2 1.000 0.040 9 21971180 missense variant G/A;T snv 0.700 0
dbSNP: rs45580035
rs45580035
8 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs587779826
rs587779826
ATM
5 0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs80358683
rs80358683
5 0.851 0.120 13 32338880 stop gained C/T snv 0.700 0
dbSNP: rs80359204
rs80359204
1 1.000 0.040 13 32394741 missense variant A/G snv 0.700 0
dbSNP: rs869312757
rs869312757
3 0.925 0.120 3 52405163 stop gained G/A;C snv 0.700 0
dbSNP: rs121913338
rs121913338
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.720 1.000 6 1986 2019
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.800 1.000 32 1989 2019
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.800 1.000 30 1989 2019
dbSNP: rs121913254
rs121913254
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.780 1.000 21 1989 2016
dbSNP: rs121913366
rs121913366
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.720 1.000 14 1989 2017
dbSNP: rs121913255
rs121913255
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 13 1989 2014
dbSNP: rs121913492
rs121913492
11 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.740 1.000 12 1989 2018
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.740 1.000 11 1989 2016
dbSNP: rs121434596
rs121434596
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 10 1989 2014