Source: CLINVAR ×
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
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 19
rs80359200
BRCA2
0.752 0.320 13 32394726 stop gained C/A;G snv 8.0E-06 12
rs137853011
CHEK2
0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 10
rs80357914
BRCA1 ; NBR2
0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 7
rs587782462
DCTN5 ; PALB2
1.000 0.080 16 23641140 synonymous variant C/A;T snv 2