Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
3 0.882 0.200 3 36993651 missense variant TG/AC mnv 0.800 1.000 7 1995 2015
dbSNP: rs121434629
rs121434629
PMS2
13 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.800 0
dbSNP: rs267608161
rs267608161
PMS2
6 0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05 0.710 1.000 6 1995 2016
dbSNP: rs587780062
rs587780062
PMS2
8 0.827 0.240 7 5995614 stop gained G/A;C snv 8.0E-06; 8.0E-05 0.710 1.000 1 2016 2016
dbSNP: rs63750871
rs63750871
PMS2
5 0.882 0.200 7 6002590 stop gained G/A snv 4.0E-06 7.0E-06 0.710 1.000 1 2004 2004
dbSNP: rs63750610
rs63750610
MLH1
6 0.851 0.240 3 37048563 missense variant C/G;T snv 0.700 1.000 11 2001 2014
dbSNP: rs587779338
rs587779338
PMS2
7 0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 0.700 1.000 9 1995 2016
dbSNP: rs188006077
rs188006077
PMS2
2 1.000 0.160 7 6003724 missense variant G/A snv 1.3E-05 0.700 1.000 5 1995 2016
dbSNP: rs200726484
rs200726484
PMS2
1 1.000 0.160 7 5987456 missense variant G/A snv 1.2E-05 2.1E-05 0.700 1.000 5 1995 2016
dbSNP: rs368516768
rs368516768
PMS2
1 1.000 0.160 7 5987255 missense variant C/G snv 2.8E-05 6.3E-05 0.700 1.000 5 1995 2016
dbSNP: rs587779328
rs587779328
PMS2
1 1.000 0.160 7 5987302 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 5 1995 2016
dbSNP: rs587779342
rs587779342
PMS2
3 0.925 0.200 7 5999199 missense variant T/G snv 8.0E-06 0.700 1.000 5 1995 2016
dbSNP: rs587779345
rs587779345
PMS2
2 0.925 0.200 7 5997342 missense variant G/C snv 4.0E-06 0.700 1.000 5 1995 2016
dbSNP: rs587779346
rs587779346
PMS2
1 1.000 0.160 7 5992040 missense variant A/C snv 0.700 1.000 5 1995 2016
dbSNP: rs63750685
rs63750685
PMS2
2 0.925 0.200 7 5987328 missense variant G/A;C snv 1.6E-05; 4.2E-03 0.700 1.000 5 1995 2016
dbSNP: rs769554577
rs769554577
PMS2
1 1.000 0.160 7 6004025 missense variant A/G snv 1.6E-05 4.2E-05 0.700 1.000 5 1995 2016
dbSNP: rs886039646
rs886039646
PMS2
3 1.000 0.160 7 5973467 frameshift variant A/- del 2.8E-05 0.700 1.000 3 2015 2017
dbSNP: rs1554298082
rs1554298082
PMS2
2 1.000 0.160 7 5987601 frameshift variant A/- del 0.700 1.000 1 2013 2013
dbSNP: rs1057515572
rs1057515572
PMS2
8 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 0
dbSNP: rs121434630
rs121434630
PMS2
1 1.000 0.160 7 6004003 stop gained A/T snv 0.700 0
dbSNP: rs1553647894
rs1553647894
MLH1
4 0.882 0.200 3 37020309 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs200640585
rs200640585
PMS2
9 0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs267607720
rs267607720
MLH1
6 0.851 0.240 3 37000952 splice region variant C/G;T snv 0.700 0
dbSNP: rs267607735
rs267607735
MLH1
4 0.851 0.240 3 37001058 splice region variant G/A snv 0.700 0
dbSNP: rs267607768
rs267607768
MLH1
6 0.851 0.240 3 37011867 splice region variant G/A;C snv 0.700 0