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: 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 6 2008 2016
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: 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: rs763308607
rs763308607
PMS2
3 1.000 0.160 7 6004059 splice acceptor variant C/G;T snv 4.0E-06; 8.1E-06 0.700 1.000 1 2016 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: 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 2 2015 2016
dbSNP: rs1554304745
rs1554304745
PMS2
1 1.000 0.160 7 6003772 frameshift variant -/GA delins 0.700 0
dbSNP: rs587781716
rs587781716
PMS2
5 1.000 0.160 7 6003718 frameshift variant C/-;CC delins 0.700 0
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: rs758304323
rs758304323
PMS2
4 0.925 0.160 7 5999277 splice acceptor variant T/C snv 1.2E-05 0.700 1.000 1 2017 2017
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: 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: rs374704824
rs374704824
PMS2
1 1.000 0.160 7 5999193 missense variant C/G;T snv 3.7E-04 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: rs267608150
rs267608150
PMS2
7 0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 0.700 0
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: 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: rs876659736
rs876659736
PMS2
4 0.925 0.200 7 5995612 missense variant T/A;C snv 8.0E-06 0.700 0
dbSNP: rs1057515571
rs1057515571
PMS2
1 1.000 0.160 7 5995591 frameshift variant C/- delins 0.700 0
dbSNP: rs63750246
rs63750246
PMS2
4 0.925 0.160 7 5995574 frameshift variant GT/- delins 0.700 1.000 1 2006 2006
dbSNP: rs267608154
rs267608154
PMS2
4 0.925 0.160 7 5995573 frameshift variant CTGTCTGT/-;CTGT delins 0.700 1.000 2 2008 2013
dbSNP: rs1261282733
rs1261282733
PMS2
1 1.000 0.160 7 5995564 frameshift variant A/- delins 0.700 0
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: rs587781339
rs587781339
PMS2
3 1.000 0.160 7 5992059 splice acceptor variant T/C;G snv 0.700 1.000 2 2014 2017
dbSNP: rs786201878
rs786201878
PMS2
1 1.000 0.160 7 5992044 missense variant A/G;T snv 8.0E-06 0.700 0