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: rs267608152
rs267608152
PMS2
1 1.000 0.160 7 5977643 missense variant A/C;G snv 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: rs63750695
rs63750695
PMS2
6 0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 0.700 1.000 6 2008 2016
dbSNP: rs267608154
rs267608154
PMS2
4 0.925 0.160 7 5995573 frameshift variant CTGTCTGT/-;CTGT delins 0.700 1.000 2 2008 2013
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: rs1057515572
rs1057515572
PMS2
8 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
dbSNP: rs267608173
rs267608173
PMS2
3 0.925 0.160 7 5978625 frameshift variant TTCT/- delins 0.700 1.000 1 2006 2006
dbSNP: rs63750246
rs63750246
PMS2
4 0.925 0.160 7 5995574 frameshift variant GT/- delins 0.700 1.000 1 2006 2006
dbSNP: rs1057515571
rs1057515571
PMS2
1 1.000 0.160 7 5995591 frameshift variant C/- delins 0.700 0
dbSNP: rs1064794577
rs1064794577
PMS2
3 1.000 0.160 7 5987294 stop gained C/A;T snv 0.700 0
dbSNP: rs1261282733
rs1261282733
PMS2
1 1.000 0.160 7 5995564 frameshift variant A/- delins 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: rs1554294019
rs1554294019
PMS2
1 1.000 0.160 7 5977759 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1554304745
rs1554304745
PMS2
1 1.000 0.160 7 6003772 frameshift variant -/GA delins 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: rs267608158
rs267608158
PMS2
2 0.925 0.160 7 5989798 splice donor variant A/T snv 0.700 0
dbSNP: rs267608159
rs267608159
PMS2
3 1.000 0.160 7 5987526 frameshift variant TTT/-;TTTT;TTTTTT delins 0.700 0
dbSNP: rs587776789
rs587776789
RB1
3 0.925 0.200 13 48349024 splice donor variant G/A;T snv 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: rs587781716
rs587781716
PMS2
5 1.000 0.160 7 6003718 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs587782704
rs587782704
PMS2
4 0.925 0.160 7 5982881 frameshift variant T/- delins 0.700 0
dbSNP: rs63750049
rs63750049
PMS2
4 0.925 0.160 7 5989923 frameshift variant T/- delins 0.700 0
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: 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