Gene: MSH2 ×
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: rs1553370431
rs1553370431
MSH2
1 2 47480820 frameshift variant -/G delins 0.700 1.000 3 1998 2008
dbSNP: rs1060502039
rs1060502039
MSH2
1 2 47475060 frameshift variant T/- delins 0.700 1.000 2 2005 2014
dbSNP: rs1064795329
rs1064795329
MSH2
1 2 47475021 splice acceptor variant AGGCTATGTAGAACCAATGCAGACAC/- delins 0.700 1.000 2 2005 2014
dbSNP: rs1553348901
rs1553348901
MSH2
1 2 47403392 splice donor variant GGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCCGGGGCC/- delins 0.700 1.000 2 2005 2014
dbSNP: rs1553366680
rs1553366680
MSH2
1 2 47466810 splice donor variant T/C snv 0.700 1.000 2 2005 2014
dbSNP: rs1553350167
rs1553350167
MSH2
1 2 47408481 stop gained TA/- delins 0.700 1.000 1 2011 2011
dbSNP: rs1553361289
rs1553361289
MSH2
1 2 47445642 frameshift variant T/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1553365719
rs1553365719
MSH2
1 2 47463054 frameshift variant A/- delins 0.700 1.000 1 2009 2009
dbSNP: rs1553370397
rs1553370397
MSH2
1 2 47480794 stop gained G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1060501989
rs1060501989
MSH2
1 2 47410115 stop gained C/T snv 0.700 0
dbSNP: rs1060501993
rs1060501993
MSH2
1 2 47403404 splice donor variant T/C snv 0.700 0
dbSNP: rs1060501994
rs1060501994
MSH2
1 2 47429776 stop gained G/A;C;T snv 0.700 0
dbSNP: rs1060502000
rs1060502000
MSH2
1 2 47403278 frameshift variant GCCG/- del 0.700 0
dbSNP: rs1060502001
rs1060502001
MSH2
1 2 47403276 stop gained A/T snv 0.700 0
dbSNP: rs1060502027
rs1060502027
MSH2
1 2 47463048 frameshift variant C/- delins 0.700 0
dbSNP: rs1060502029
rs1060502029
MSH2
1 2 47463114 frameshift variant GAAG/AAA delins 0.700 0
dbSNP: rs1060502032
rs1060502032
MSH2
1 2 47476522 stop gained G/T snv 0.700 0
dbSNP: rs1060502035
rs1060502035
MSH2
1 2 47445574 frameshift variant -/T;TT delins 0.700 0
dbSNP: rs1064792951
rs1064792951
MSH2
1 2 47482781 frameshift variant TGAAAAAATTATTCAGG/- delins 0.700 0
dbSNP: rs1553348794
rs1553348794
MSH2
1 2 47403305 frameshift variant C/- delins 0.700 0
dbSNP: rs1553348842
rs1553348842
MSH2
1 2 47403343 frameshift variant -/G delins 0.700 0
dbSNP: rs1553348898
rs1553348898
MSH2
1 2 47403384 frameshift variant -/TC ins 0.700 0
dbSNP: rs1553348904
rs1553348904
MSH2
1 2 47403396 frameshift variant C/- delins 0.700 0
dbSNP: rs1553350466
rs1553350466
MSH2
1 2 47409568 splice acceptor variant GGCCAGGACGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCACTCAGCCAGTTATTTTTTTATAAGAAAACATTTTACTGGCCAGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCGCCTGTATTCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGATTGAACCCTTGAGGCAGAGGTTGCAGTGAGTTGAGATCGCACCATTGCACTCTAGCCTGGGTGACAGAGCAAGACTTCATCTCAAAAAAAAGAGAAAACATTTTATTAATAAGGTTCATAGAGTTTGGATTTTTCCTTTTTGCTTATAAAATTTTAAAGTATGTTCAAGAGTTTGTTAAATTTTTAAAATTTTATTTTTACTTAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGT/- delins 0.700 0
dbSNP: rs1553350758
rs1553350758
MSH2
1 2 47410202 frameshift variant A/- del 0.700 0