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: rs587776715
rs587776715
PMS2
3 0.925 0.200 7 5987544 frameshift variant C/- delins 0.700 0
dbSNP: rs587779324
rs587779324
PMS2
1 1.000 0.160 7 6004060 splice acceptor variant T/C snv 0.700 0
dbSNP: rs587779326
rs587779326
PMS2
2 1.000 0.160 7 5989831 frameshift variant AT/TAAA delins 0.700 0
dbSNP: rs587779329
rs587779329
PMS2
1 1.000 0.160 7 6005890 splice donor variant A/G snv 0.700 0
dbSNP: rs587779330
rs587779330
PMS2
2 1.000 0.160 7 5987034 frameshift variant -/T delins 0.700 0
dbSNP: rs587779336
rs587779336
PMS2
1 1.000 0.160 7 6004001 frameshift variant -/CA delins 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: rs587779347
rs587779347
PMS2
3 1.000 0.160 7 5989957 splice acceptor variant T/C snv 0.700 0
dbSNP: rs587781626
rs587781626
PMS2
3 1.000 0.160 7 5973487 frameshift variant AT/C delins 0.700 0
dbSNP: rs63750106
rs63750106
PMS2
2 0.925 0.200 7 5987458 frameshift variant -/T delins 0.700 0
dbSNP: rs63750246
rs63750246
PMS2
4 0.925 0.160 7 5995574 frameshift variant GT/- delins 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: rs63750477
rs63750477
PMS2
1 1.000 0.160 7 5986997 frameshift variant T/- del 0.700 0
dbSNP: rs63750490
rs63750490
PMS2
3 1.000 0.160 7 5986925 stop gained T/A snv 0.700 0
dbSNP: rs63750793
rs63750793
PMS2
2 0.925 0.200 7 6004040 frameshift variant T/- del 0.700 0
dbSNP: rs63751029
rs63751029
PMS2
1 1.000 0.160 7 5999270 frameshift variant A/- del 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: rs753256070
rs753256070
PMS2
1 1.000 0.160 7 5987130 frameshift variant AG/- delins 0.700 0
dbSNP: rs759151952
rs759151952
PMS2
4 0.925 0.200 7 5987265 frameshift variant G/-;GG delins 7.0E-06 0.700 0
dbSNP: rs786204104
rs786204104
PMS2
1 1.000 0.160 7 5987580 frameshift variant G/- delins 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: 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: rs876661116
rs876661116
PMS2
2 0.925 0.160 7 5977598 missense variant C/A;T snv 0.010 1.000 1 2006 2006