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: rs1554306353
rs1554306353
PMS2
1 1.000 0.160 7 6005921 missense variant T/G snv 0.700 1.000 1 2014 2014
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: 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: rs876661116
rs876661116
PMS2
2 0.925 0.160 7 5977598 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs267608161
rs267608161
PMS2
6 0.851 0.200 7 5982885 missense variant C/T snv 4.0E-05 2.8E-05 0.700 0
dbSNP: rs587779338
rs587779338
PMS2
7 0.851 0.200 7 5977589 missense variant G/A snv 1.0E-05 2.1E-05 0.700 0
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: 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: rs267608147
rs267608147
PMS2
2 1.000 0.160 7 5999107 splice donor variant C/A;G snv 0.700 0
dbSNP: rs267608158
rs267608158
PMS2
2 0.925 0.160 7 5989798 splice donor variant A/T snv 0.700 0
dbSNP: rs373885654
rs373885654
PMS2
1 1.000 0.160 7 5989799 splice donor variant C/G;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs587779329
rs587779329
PMS2
1 1.000 0.160 7 6005890 splice donor variant A/G snv 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 1.000 11 2005 2016
dbSNP: rs587782704
rs587782704
PMS2
4 0.925 0.160 7 5982881 frameshift variant T/- delins 0.700 1.000 5 2013 2016
dbSNP: rs267608154
rs267608154
PMS2
4 0.925 0.160 7 5995573 frameshift variant CTGTCTGT/-;CTGT delins 0.700 1.000 4 2006 2013
dbSNP: rs63750049
rs63750049
PMS2
4 0.925 0.160 7 5989923 frameshift variant T/- delins 0.700 1.000 4 2005 2008
dbSNP: rs63750695
rs63750695
PMS2
6 0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 0.700 1.000 4 2004 2010
dbSNP: rs786203073
rs786203073
PMS2
3 1.000 0.160 7 5986891 frameshift variant A/- delins 4.0E-06 0.700 1.000 3 2016 2017
dbSNP: rs267608149
rs267608149
PMS2
2 1.000 0.160 7 5997326 frameshift variant -/A delins 0.700 1.000 2 2008 2016
dbSNP: rs587779344
rs587779344
PMS2
1 1.000 0.160 7 5997349 frameshift variant GG/C;G delins 0.700 1.000 1 2013 2013
dbSNP: rs876658964
rs876658964
PMS2
2 1.000 0.160 7 5995586 frameshift variant G/- del 0.700 1.000 1 2017 2017
dbSNP: rs1064794566
rs1064794566
PMS2
2 1.000 0.160 7 5986795 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs1064796500
rs1064796500
PMS2
1 1.000 0.160 7 5973455 frameshift variant G/- delins 0.700 0
dbSNP: rs1554292880
rs1554292880
PMS2
1 1.000 0.160 7 5973529 frameshift variant -/T delins 0.700 0