Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587776705
FBXO11 ; MSH6
1.000 0.160 2 47803633 inframe deletion GTG/- del 1
rs267607990
MSH2
1.000 0.160 2 47476362 splice region variant T/A;C snv 1
rs121434630
PMS2
1.000 0.160 7 6004003 stop gained A/T snv 1
rs188006077
PMS2
1.000 0.160 7 6003724 missense variant G/A snv 1.3E-05 1
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs397514684
MLH1
1.000 0.160 3 37000965 missense variant T/C;G snv 2
rs587776706
MSH6 ; FBXO11
1.000 0.160 2 47805692 frameshift variant -/T delins 2
rs1554298082
PMS2
1.000 0.160 7 5987601 frameshift variant A/- del 2
rs587779342
PMS2
0.925 0.200 7 5999199 missense variant T/G snv 8.0E-06 2
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
rs63750793
PMS2
0.925 0.200 7 6004040 frameshift variant T/- del 2
rs869320619
PMS2
1.000 0.160 7 5986763 missense variant T/C snv 2
rs121912965
EPM2AIP1 ; MLH1
0.882 0.200 3 36993651 missense variant TG/AC mnv 3
rs267607970
MSH2
0.925 0.200 2 47470964 splice acceptor variant G/A snv 3
rs63751449
MSH2
0.925 0.200 2 47410178 frameshift variant A/-;AA delins 3
rs587776715
PMS2
0.925 0.200 7 5987544 frameshift variant C/- delins 3
rs587779338
PMS2
0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 3
rs886039646
PMS2
1.000 0.160 7 5973467 frameshift variant A/- del 2.8E-05 3
rs1553647894
MLH1
0.882 0.200 3 37020309 splice acceptor variant G/A;C snv 4
rs267607735
MLH1
0.851 0.240 3 37001058 splice region variant G/A snv 4
rs63750899
MLH1
0.851 0.200 3 37048562 missense variant C/G;T snv 4
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
rs587780062
PMS2
0.827 0.240 7 5995614 stop gained G/A;C snv 8.0E-06; 8.0E-05 4