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: rs1554304745
rs1554304745
PMS2
1 1.000 0.160 7 6003772 frameshift variant -/GA delins 0.700 0
dbSNP: rs63750250
rs63750250
PMS2
9 0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 0.700 0
dbSNP: rs1261282733
rs1261282733
PMS2
1 1.000 0.160 7 5995564 frameshift variant A/- delins 0.700 0
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: 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: rs786201878
rs786201878
PMS2
1 1.000 0.160 7 5992044 missense variant A/G;T snv 8.0E-06 0.700 0
dbSNP: rs267608158
rs267608158
PMS2
2 0.925 0.160 7 5989798 splice donor variant A/T snv 0.700 0
dbSNP: rs63750695
rs63750695
PMS2
6 0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 0.700 1.000 6 2008 2016
dbSNP: rs267608150
rs267608150
PMS2
7 0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 0.700 0
dbSNP: rs1057515571
rs1057515571
PMS2
1 1.000 0.160 7 5995591 frameshift variant C/- delins 0.700 0
dbSNP: rs587781716
rs587781716
PMS2
5 1.000 0.160 7 6003718 frameshift variant C/-;CC delins 0.700 0
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 4 2010 2015
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: 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: 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: 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: rs1064794577
rs1064794577
PMS2
3 1.000 0.160 7 5987294 stop gained C/A;T snv 0.700 0
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: 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: rs374704824
rs374704824
PMS2
1 1.000 0.160 7 5999193 missense variant C/G;T snv 3.7E-04 0.700 0
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: 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: rs267608154
rs267608154
PMS2
4 0.925 0.160 7 5995573 frameshift variant CTGTCTGT/-;CTGT delins 0.700 1.000 2 2008 2013
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