Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs137852986
BRIP1
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 9
rs80359180
BRCA2
0.827 0.280 13 32380085 stop gained C/A;G;T snv 6
rs532480170
C11orf65 ; ATM
0.882 0.280 11 108316015 stop gained C/A;T snv 1.2E-05; 4.0E-06 5