Disease: Hereditary Nonpolyposis Colorectal Cancer
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587779157
MSH2
0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins 6
rs63750695
PMS2
0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 6
rs267608059
MSH6 ; FBXO11
0.882 0.240 2 47801050 stop gained G/T snv 5
rs587779021
MLH1
0.851 0.200 3 37008905 missense variant G/A;C snv 3
rs759151952
PMS2
0.925 0.200 7 5987265 frameshift variant G/-;GG delins 7.0E-06 3