Disease: Neoplastic Syndromes, Hereditary
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs121909232
PTEN
0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06 9
rs180177132
PALB2
0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 8
rs45580035
BRCA2
0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 8
rs104894097
CDKN2A
0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 7
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 6
rs121913386
CDKN2A
0.807 0.120 9 21971018 missense variant G/A;T snv 6
rs121913315
STK11
0.882 0.160 19 1220488 missense variant G/A;T snv 5
rs587779826
ATM
0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06 5
rs80358683
BRCA2
0.851 0.120 13 32338880 stop gained C/T snv 5
rs869312757
BAP1
0.925 0.120 3 52405163 stop gained G/A;C snv 3