Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs63750508
MSH2
0.851 0.240 2 47475126 stop gained C/G;T snv 6
rs63750875
MSH2
0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 6
rs267607990
MSH2
1.000 0.160 2 47476362 splice region variant T/A;C snv 1
rs63750636
MSH2
0.851 0.240 2 47476492 stop gained C/T snv 7.0E-06 6
rs786201042
MSH6
0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 6
rs63751017
FBXO11 ; MSH6
0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05 6
rs63749999
FBXO11 ; MSH6
0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05 6
rs63749843
MSH6 ; FBXO11
0.827 0.240 2 47803449 stop gained C/A;G;T snv 7
rs587776705
FBXO11 ; MSH6
1.000 0.160 2 47803633 inframe deletion GTG/- del 1
rs587776706
MSH6 ; FBXO11
1.000 0.160 2 47805692 frameshift variant -/T delins 2
rs876660943
FBXO11 ; MSH6
0.882 0.240 2 47806359 splice donor variant G/T snv 7.0E-06 5
rs886039646
PMS2
1.000 0.160 7 5973467 frameshift variant A/- del 2.8E-05 3
rs587779338
PMS2
0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 3
rs63751466
PMS2
0.882 0.200 7 5977629 stop gained G/A;T snv 2.7E-05 5
rs267608160
PMS2
0.925 0.200 7 5977669 frameshift variant GAAG/- del 4
rs267608161
PMS2
0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05 4
rs869320619
PMS2
1.000 0.160 7 5986763 missense variant T/C snv 2
rs63751422
PMS2
0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06 7
rs1057515572
PMS2
0.882 0.200 7 5987033 frameshift variant GC/ACT delins 8
rs587780724
PMS2
1.000 0.160 7 5987389 stop gained G/C;T snv 2
rs63750106
PMS2
0.925 0.200 7 5987458 frameshift variant -/T delins 2
rs587776715
PMS2
0.925 0.200 7 5987544 frameshift variant C/- delins 3
rs1554298082
PMS2
1.000 0.160 7 5987601 frameshift variant A/- del 2
rs200640585
PMS2
0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 5
rs876659736
PMS2
0.925 0.200 7 5995612 missense variant T/A;C snv 8.0E-06 4