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: rs63751466
rs63751466
PMS2
5 0.882 0.200 7 5977629 stop gained G/A;T snv 2.7E-05 0.700 1.000 9 1995 2015
dbSNP: rs200640585
rs200640585
PMS2
9 0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 0.700 1.000 5 2010 2015
dbSNP: rs63750871
rs63750871
PMS2
5 0.882 0.200 7 6002590 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 3 1998 2016
dbSNP: rs730881919
rs730881919
PMS2
2 1.000 0.160 7 6003981 stop gained C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs1064794577
rs1064794577
PMS2
3 1.000 0.160 7 5987294 stop gained C/A;T snv 0.700 0
dbSNP: rs1458321358
rs1458321358
PMS2
2 1.000 0.160 7 5997420 stop gained G/A snv 9.2E-06 0.700 0
dbSNP: rs201451115
rs201451115
PMS2
4 0.925 0.160 7 5986826 stop gained T/A snv 4.0E-06 0.700 0
dbSNP: rs267608150
rs267608150
PMS2
7 0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 0.700 0
dbSNP: rs587778617
rs587778617
PMS2
8 0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs587780062
rs587780062
PMS2
8 0.827 0.240 7 5995614 stop gained G/A;C snv 8.0E-06; 8.0E-05 0.700 0
dbSNP: rs63750451
rs63750451
PMS2
7 0.827 0.160 7 5986883 stop gained G/A;C snv 1.6E-05 0.700 0
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 1.000 15 2005 2017
dbSNP: rs587779342
rs587779342
PMS2
3 0.925 0.200 7 5999199 missense variant T/G snv 8.0E-06 0.800 1.000 13 1999 2017
dbSNP: rs587779345
rs587779345
PMS2
2 0.925 0.200 7 5997342 missense variant G/C snv 4.0E-06 0.700 1.000 13 1999 2017
dbSNP: rs1805324
rs1805324
PMS2
1 1.000 0.160 7 5986899 missense variant C/G;T snv 1.6E-02 0.700 1.000 10 1999 2013
dbSNP: rs267608152
rs267608152
PMS2
1 1.000 0.160 7 5977643 missense variant A/C;G snv 0.700 1.000 10 1999 2013
dbSNP: rs267608161
rs267608161
PMS2
6 0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05 0.700 1.000 10 1999 2013
dbSNP: rs267608174
rs267608174
PMS2
1 1.000 0.160 7 5973460 missense variant C/T snv 0.700 1.000 10 1999 2013
dbSNP: rs587779332
rs587779332
PMS2
1 1.000 0.160 7 5986777 missense variant T/G snv 0.700 1.000 10 1999 2013
dbSNP: rs587779337
rs587779337
PMS2
2 1.000 0.160 7 5978622 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 10 1999 2013
dbSNP: rs587779341
rs587779341
PMS2
1 1.000 0.160 7 5999269 missense variant C/T snv 4.0E-06; 4.0E-06 0.700 1.000 10 1999 2013
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 10 1999 2013
dbSNP: rs267608153
rs267608153
PMS2
4 0.925 0.160 7 5995534 missense variant C/A;T snv 4.0E-06; 1.2E-05 0.700 1.000 4 2008 2016
dbSNP: rs374704824
rs374704824
PMS2
1 1.000 0.160 7 5999193 missense variant C/G;T snv 3.7E-04 0.700 0
dbSNP: rs63750947
rs63750947
PMS2
2 0.925 0.200 7 5987012 missense variant G/T snv 8.0E-06 1.4E-05 0.700 0