Gene: PMS2 ×
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: rs121434629
rs121434629
PMS2
13 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 1.000 25 1995 2018
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 13 1995 2016
dbSNP: rs63751422
rs63751422
PMS2
7 0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 10 2005 2016
dbSNP: rs1060503115
rs1060503115
PMS2
13 0.763 0.400 7 5978664 missense variant T/A;G snv 0.090 0.889 9 2007 2019
dbSNP: rs267608172
rs267608172
PMS2
4 0.925 0.160 7 5982823 splice donor variant C/A;G;T snv 4.1E-06; 1.6E-05 0.700 1.000 7 2008 2016
dbSNP: rs587779333
rs587779333
PMS2 ; AIMP2
10 0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 0.700 1.000 7 2008 2016
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: rs587779343
rs587779343
PMS2
3 1.000 0.160 7 5999116 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.700 1.000 4 2009 2016
dbSNP: rs758304323
rs758304323
PMS2
4 0.925 0.160 7 5999277 splice acceptor variant T/C snv 1.2E-05 0.700 1.000 4 2013 2017
dbSNP: rs573125799
rs573125799
PMS2
3 1.000 0.160 7 5997364 stop gained G/A;T snv 3.6E-05 0.700 1.000 3 2015 2016
dbSNP: rs587779340
rs587779340
PMS2
7 0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 0.700 1.000 3 2008 2015
dbSNP: rs587780059
rs587780059
PMS2 ; AIMP2
5 0.882 0.200 7 6009018 start lost A/C;G;T snv 4.0E-06; 4.0E-06; 8.0E-06 0.700 1.000 3 2015 2016
dbSNP: rs587778617
rs587778617
PMS2
8 0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 0.710 1.000 2 2016 2019
dbSNP: rs141577476
rs141577476
PMS2
3 1.000 0.160 7 6005967 stop gained G/A;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs1554306353
rs1554306353
PMS2
1 1.000 0.160 7 6005921 missense variant T/G snv 0.700 1.000 1 2014 2014
dbSNP: rs200640585
rs200640585
PMS2
9 0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 0.710 1.000 1 2019 2019
dbSNP: rs376258383
rs376258383
PMS2
1 1.000 0.160 7 5999131 missense variant C/T snv 3.6E-05 4.9E-05 0.010 1.000 1 2002 2002
dbSNP: rs760228510
rs760228510
PMS2
6 0.925 0.240 7 5999182 stop gained G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs786203075
rs786203075
PMS2
1 1.000 0.160 7 5986831 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs869312801
rs869312801
PMS2
4 0.882 0.160 7 5987062 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs876658862
rs876658862
PMS2
4 0.925 0.160 7 5987567 stop gained G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs876659729
rs876659729
PMS2
2 0.925 0.160 7 5989828 synonymous variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs876661116
rs876661116
PMS2
2 0.925 0.160 7 5977598 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs988423880
rs988423880
PMS2
3 1.000 0.160 7 5999276 splice acceptor variant C/G snv 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs143277125
rs143277125
PMS2
6 0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 0.700 0