Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057515572
PMS2
0.882 0.200 7 5987033 frameshift variant GC/ACT delins 8
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 12
rs121434630
PMS2
1.000 0.160 7 6004003 stop gained A/T snv 1
rs121912965
EPM2AIP1 ; MLH1
0.882 0.200 3 36993651 missense variant TG/AC mnv 3
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs1553647894
MLH1
0.882 0.200 3 37020309 splice acceptor variant G/A;C snv 4
rs1554298082
PMS2
1.000 0.160 7 5987601 frameshift variant A/- del 2
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs188006077
PMS2
1.000 0.160 7 6003724 missense variant G/A snv 1.3E-05 1
rs200640585
PMS2
0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 5
rs267607720
MLH1
0.851 0.240 3 37000952 splice region variant C/G;T snv 6
rs267607735
MLH1
0.851 0.240 3 37001058 splice region variant G/A snv 4
rs267607768
MLH1
0.851 0.240 3 37011867 splice region variant G/A;C snv 6
rs267607871
MLH1
0.851 0.240 3 37048515 splice acceptor variant A/G snv 4.0E-06 6
rs267607940
MSH2
0.851 0.240 2 47416430 splice donor variant G/A;T snv 6
rs267607970
MSH2
0.925 0.200 2 47470964 splice acceptor variant G/A snv 3
rs267607990
MSH2
1.000 0.160 2 47476362 splice region variant T/A;C snv 1
rs267608150
PMS2
0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 7
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
rs397514684
MLH1
1.000 0.160 3 37000965 missense variant T/C;G snv 2
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
rs587776715
PMS2
0.925 0.200 7 5987544 frameshift variant C/- delins 3