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: rs1554308880
rs1554308880
PMS2 ; AIMP2
1 1.000 0.160 7 6008969 intron variant CACCGGAA/- delins 0.700 0
dbSNP: rs267608150
rs267608150
PMS2
7 0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 0.700 1.000 14 2006 2016
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: 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: 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: 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: 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: rs760228510
rs760228510
PMS2
6 0.925 0.240 7 5999182 stop gained G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs876658862
rs876658862
PMS2
4 0.925 0.160 7 5987567 stop gained G/A snv 0.010 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
dbSNP: rs1554294448
rs1554294448
PMS2
1 1.000 0.160 7 5978632 stop gained T/A snv 0.700 0
dbSNP: rs1554297125
rs1554297125
PMS2
1 1.000 0.160 7 5986856 stop gained G/A snv 0.700 0
dbSNP: rs1554301495
rs1554301495
PMS2
1 1.000 0.160 7 5997388 stop gained AGGGGGCAG/CTTCACAACACAGC;CTTCACAGCACAGC delins 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: rs267608169
rs267608169
PMS2
3 1.000 0.160 7 5987027 stop gained T/A snv 0.700 0
dbSNP: rs63750261
rs63750261
PMS2
2 1.000 0.160 7 5999110 stop gained G/A snv 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: rs63750490
rs63750490
PMS2
3 1.000 0.160 7 5986925 stop gained T/A snv 0.700 0
dbSNP: rs63751466
rs63751466
PMS2
5 0.882 0.200 7 5977629 stop gained G/A;T snv 2.7E-05 0.700 0
dbSNP: rs863224496
rs863224496
PMS2
2 1.000 0.160 7 5987468 stop gained T/A;C snv 4.0E-06 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 0.700 1.000 25 1995 2018
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: 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