Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267607953
MSH2
0.925 0.160 2 47429943 splice donor variant T/A;C snv 4.0E-06 4
rs267607969
MSH2
0.925 0.160 2 47466809 splice donor variant G/A;T snv 4
rs28929483
MSH2
0.925 0.160 2 47475130 missense variant C/A;G;T snv 4
rs587779067
MSH2
0.882 0.200 2 47416399 missense variant C/G;T snv 4
rs587779075
MSH2
0.882 0.200 2 47429830 stop gained C/T snv 4
rs587779185
MSH2
0.925 0.160 2 47414284 frameshift variant TCTG/- delins 4
rs587779198
MSH2
0.925 0.160 2 47416294 splice acceptor variant A/G snv 4
rs63749811
MSH2
0.925 0.160 2 47476474 frameshift variant G/- del 4
rs63749831
MSH2
0.925 0.160 2 47475051 inframe deletion AAT/- del 4.0E-06 4
rs63750393
MSH2
0.925 0.160 2 47471007 frameshift variant GA/-;GAGA delins 4
rs63750398
MSH2
0.925 0.160 2 47476451 missense variant G/A;T snv 4
rs63750488
MSH2
0.925 0.160 2 47412483 stop gained C/G;T snv 4
rs63750624
MSH2
0.925 0.160 2 47410211 missense variant G/A snv 4
rs63750704
MSH2
0.925 0.160 2 47410115 frameshift variant CA/- del 4
rs63750828
MSH2
0.925 0.160 2 47416351 missense variant G/A snv 4
rs63750849
MSH2
0.925 0.160 2 47480816 stop gained C/A;T snv 8.0E-06 4
rs63750970
MSH2
0.925 0.160 2 47408478 stop gained C/T snv 4
rs63751155
MSH2
0.925 0.160 2 47478289 stop gained C/A;G;T snv 4
rs63751618
MSH2
0.925 0.160 2 47480866 frameshift variant AG/- delins 4
rs587783056
MSH6 ; FBXO11
0.925 0.160 2 47799685 frameshift variant TT/- delins 1.4E-05 4
rs587778967
EPM2AIP1 ; MLH1
0.925 0.200 3 36993548 start lost A/C;G snv 3
rs63750648
EPM2AIP1 ; MLH1
0.882 0.160 3 36993602 missense variant A/T snv 3
rs63751022
MLH1
0.925 0.160 3 37050523 stop gained G/A snv 3
rs63751662
MLH1
0.925 0.160 3 37048609 missense variant G/A;T snv 3
rs63750706
MLH1 ; EPM2AIP1
0.882 0.160 3 36993609 missense variant C/A;T snv 3