Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs863225281
ALK
0.776 0.200 2 29220829 missense variant G/C;T snv 1
rs879254046
ATM
0.925 0.240 11 108267246 stop gained G/A;C;T snv 1
rs745775382
ATM ; C11orf65
1.000 0.040 11 108333954 missense variant A/C;G snv 8.0E-06 1
rs879254065
ATM ; C11orf65
1.000 0.040 11 108345849 missense variant C/G snv 1
rs778066815
ATP6V0D2 ; PSKH2
1.000 0.040 8 86064182 missense variant T/A snv 4.0E-06 1
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 1
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 1
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 1
rs121913361
BRAF
0.807 0.280 7 140753349 missense variant C/A;G;T snv 1
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 1
rs121913370
BRAF
0.763 0.360 7 140753393 missense variant T/C;G snv 1
rs180177040
BRAF
0.790 0.360 7 140754187 missense variant T/C;G snv 1
rs397507483
BRAF
0.790 0.400 7 140753348 missense variant C/A;T snv 1
rs104894340
CDK4
0.827 0.200 12 57751647 missense variant C/A;T snv 1
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 1
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv 1
rs121913385
CDKN2A
0.763 0.240 9 21971112 missense variant G/A;C snv 1
rs1423790481
CDKN2B ; CDKN2B-AS1
1.000 0.040 9 22008805 missense variant G/A snv 4.5E-06 1
rs121913399
CTNNB1
0.724 0.200 3 41224612 missense variant G/A;C snv 1
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv 1
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 1
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv 1
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv 1
rs147001633
DNMT3A
0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 1
rs377577594
DNMT3A
0.827 0.240 2 25234374 missense variant G/A;C;T snv 1.2E-04; 8.0E-06 1