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: rs876658964
rs876658964
PMS2
2 1.000 0.160 7 5995586 frameshift variant G/- del 0.700 1.000 1 2017 2017
dbSNP: rs1554292684
rs1554292684
PMS2
1 1.000 0.160 7 5973399 stop lost TCAGTTCTGAGAAATGACACCCAGGTTGGCGATGTGTCTCATGGTTGGCCTTCCATGGGGACAGTTCCAGGGGTGGTCCATCTCCCCCATGTGGGTGATCAGTTTCTTCATCTCGCTTGTGTTAAGAGCAGTCCCAATCATCAC/- del 0.700 0
dbSNP: rs1554294505
rs1554294505
PMS2
1 1.000 0.160 7 5978687 frameshift variant A/- del 0.700 0
dbSNP: rs267608160
rs267608160
PMS2
4 0.925 0.200 7 5977669 frameshift variant GAAG/- del 0.700 0
dbSNP: rs63750477
rs63750477
PMS2
1 1.000 0.160 7 5986997 frameshift variant T/- del 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: rs267608150
rs267608150
PMS2
7 0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 0.700 1.000 14 2006 2016
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: 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
dbSNP: rs1554297962
rs1554297962
PMS2
1 1.000 0.160 7 5987486 frameshift variant GAGAA/- delins 0.700 0
dbSNP: rs1554301495
rs1554301495
PMS2
1 1.000 0.160 7 5997388 stop gained AGGGGGCAG/CTTCACAACACAGC;CTTCACAGCACAGC delins 0.700 0
dbSNP: rs1554306445
rs1554306445
PMS2
2 1.000 0.160 7 6005948 splice acceptor variant CTTAGACTCAGTACCACCTGCCCAGAGCAAATCTGATGGACTGACTTCCGATCAATAGGTTTGATGGCCTTAGCAGGTTCTGTACTAGAGAAATCA/ATTT delins 0.700 0
dbSNP: rs1554308880
rs1554308880
PMS2 ; AIMP2
1 1.000 0.160 7 6008969 intron variant CACCGGAA/- delins 0.700 0
dbSNP: rs1562633331
rs1562633331
PMS2
1 1.000 0.160 7 5987363 frameshift variant GACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGG/- delins 0.700 0
dbSNP: rs1562634268
rs1562634268
PMS2
1 1.000 0.160 7 5987414 frameshift variant T/- delins 0.700 0