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: rs11571658
rs11571658
6 0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 0.700 0
dbSNP: rs1207121718
rs1207121718
1 1.000 0.080 12 121269557 missense variant C/T snv 0.700 0
dbSNP: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs121913361
rs121913361
7 0.807 0.280 7 140753349 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121913370
rs121913370
10 0.763 0.360 7 140753393 missense variant T/C;G snv 0.700 0
dbSNP: rs121918279
rs121918279
5 0.851 0.240 11 44108226 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1262765773
rs1262765773
1 1.000 0.080 12 64485493 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1294404368
rs1294404368
1 1.000 0.080 7 98981947 missense variant C/T snv 4.4E-06 1.4E-05 0.700 0
dbSNP: rs137853007
rs137853007
9 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.700 0
dbSNP: rs138398778
rs138398778
ATM
1 1.000 0.080 11 108247071 missense variant C/A;T snv 8.0E-06; 8.8E-05 0.700 0
dbSNP: rs140213020
rs140213020
1 1.000 0.080 9 91724870 missense variant C/A;T snv 8.2E-06; 2.0E-05 0.700 0
dbSNP: rs140599545
rs140599545
1 1.000 0.080 3 131228602 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs1407808379
rs1407808379
1 1.000 0.080 3 49862154 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs145602440
rs145602440
KIT
1 1.000 0.080 4 54733118 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs147978363
rs147978363
1 1.000 0.080 16 22257356 missense variant C/T snv 6.7E-04 5.6E-04 0.700 0
dbSNP: rs149061352
rs149061352
TTN
1 1.000 0.080 2 178785717 missense variant G/A;T snv 4.4E-05; 4.0E-06 0.700 0
dbSNP: rs149403911
rs149403911
RET
1 1.000 0.080 10 43102492 missense variant G/A;T snv 2.0E-05 0.700 0
dbSNP: rs150766139
rs150766139
13 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.700 0
dbSNP: rs200709914
rs200709914
1 1.000 0.080 3 131080575 missense variant C/T snv 4.8E-05 9.8E-05 0.700 0
dbSNP: rs202160435
rs202160435
ATM
2 0.925 0.240 11 108247072 missense variant G/A snv 8.0E-05 6.3E-05 0.700 0
dbSNP: rs267607845
rs267607845
5 0.925 0.160 3 37042267 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs368370244
rs368370244
1 1.000 0.080 7 56087718 missense variant C/T snv 3.6E-05 5.6E-05 0.700 0
dbSNP: rs373605259
rs373605259
1 1.000 0.080 3 36737396 missense variant C/T snv 5.2E-05 2.1E-05 0.700 0
dbSNP: rs373632999
rs373632999
1 1.000 0.080 7 98949733 missense variant G/A snv 1.2E-05 4.2E-05 0.700 0
dbSNP: rs376029388
rs376029388
1 1.000 0.080 6 166412769 missense variant C/T snv 1.3E-05 2.1E-05 0.700 0