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: rs878853787
rs878853787
MLH1
1 3 37050630 stop gained -/A delins 0.700 1.000 9 1996 2016
dbSNP: rs876661113
rs876661113
PMS2
2 7 5977587 splice donor variant C/A;G;T snv 0.700 1.000 8 2009 2016
dbSNP: rs1553665683
rs1553665683
MLH1
1 3 37050540 stop gained -/TATAAAGCCTTGCGCTCACACATTCTGCCTC delins 0.700 1.000 6 1999 2014
dbSNP: rs587782326
rs587782326
MSH6 ; FBXO11
2 2 47806628 frameshift variant -/A delins 0.700 1.000 6 2003 2015
dbSNP: rs1553333497
rs1553333497
MSH6 ; FBXO11
1 2 47806526 frameshift variant TGTCCTAAAAGCT/- delins 0.700 1.000 5 2005 2013
dbSNP: rs1553333605
rs1553333605
MSH6 ; FBXO11
1 2 47806576 frameshift variant -/GAGA ins 0.700 1.000 5 2005 2013
dbSNP: rs1558394336
rs1558394336
MSH6 ; FBXO11
1 2 47806602 frameshift variant AAGCAAGAGAATTTGAGAA/- delins 0.700 1.000 5 2003 2011
dbSNP: rs587779285
rs587779285
MSH6 ; FBXO11
2 2 47806281 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 5 2007 2014
dbSNP: rs587780064
rs587780064
PMS2
2 7 5989956 splice acceptor variant C/A snv 4.1E-06 0.700 1.000 5 2009 2014
dbSNP: rs878853742
rs878853742
MSH6 ; FBXO11
1 2 47806579 frameshift variant -/GGAAGTTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTG delins 0.700 1.000 5 2003 2011
dbSNP: rs1060500698
rs1060500698
MLH1
1 3 37050639 frameshift variant T/- delins 0.700 1.000 4 2003 2012
dbSNP: rs1553408388
rs1553408388
MSH6
2 2 47783453 stop gained G/T snv 0.700 1.000 4 2006 2015
dbSNP: rs1553665866
rs1553665866
MLH1
1 3 37050594 stop gained G/T snv 0.700 1.000 4 1999 2010
dbSNP: rs1558394093
rs1558394093
MSH6 ; FBXO11
1 2 47806580 frameshift variant G/- delins 0.700 1.000 4 1998 2011
dbSNP: rs587782710
rs587782710
PMS2
3 1.000 7 5997376 frameshift variant GGAGTCAC/- delins 0.700 1.000 4 2010 2016
dbSNP: rs863225397
rs863225397
MSH2
2 2 47414268 splice acceptor variant G/A snv 0.700 1.000 4 2005 2016
dbSNP: rs1060500699
rs1060500699
MLH1
2 3 37025702 frameshift variant -/T delins 0.700 1.000 3 2015 2017
dbSNP: rs1060502926
rs1060502926
MSH6 ; FBXO11
1 2 47805028 splice donor variant G/A;C snv 0.700 1.000 3 2008 2015
dbSNP: rs1114167767
rs1114167767
MSH6 ; FBXO11
2 2 47804948 frameshift variant C/- del 0.700 1.000 3 2011 2016
dbSNP: rs1553331242
rs1553331242
MSH6 ; FBXO11
1 2 47803418 splice acceptor variant A/C;T snv 0.700 1.000 3 2008 2014
dbSNP: rs1553333175
rs1553333175
MSH6 ; FBXO11
1 2 47806355 splice donor variant GTATG/- delins 0.700 1.000 3 2008 2015
dbSNP: rs1553370431
rs1553370431
MSH2
1 2 47480820 frameshift variant -/G delins 0.700 1.000 3 1998 2008
dbSNP: rs1554293810
rs1554293810
PMS2
2 7 5977620 stop gained G/A snv 0.700 1.000 3 1999 2010
dbSNP: rs1559597322
rs1559597322
MLH1
1 3 37050642 frameshift variant AG/- delins 0.700 1.000 3 2003 2010
dbSNP: rs267607744
rs267607744
MLH1
1 3 37006990 splice acceptor variant G/A;C snv 0.700 1.000 3 2005 2015