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: rs1553665683
rs1553665683
MLH1
1 3 37050540 stop gained -/TATAAAGCCTTGCGCTCACACATTCTGCCTC delins 0.700 1.000 6 1999 2014
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: 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: 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: rs1060502926
rs1060502926
MSH6 ; FBXO11
1 2 47805028 splice donor variant G/A;C snv 0.700 1.000 3 2008 2015
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: 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
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: rs111466480
rs111466480
PMS2
1 7 6003688 splice donor variant A/C;G snv 4.3E-06 0.700 1.000 2 2011 2014
dbSNP: rs1553332768
rs1553332768
MSH6 ; FBXO11
1 2 47805706 splice donor variant -/G delins 0.700 1.000 2 2008 2014
dbSNP: rs1553333674
rs1553333674
MSH6 ; FBXO11
1 2 47806591 frameshift variant GGACATAGAAAAG/- delins 0.700 1.000 2 2010 2011
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: rs1553412755
rs1553412755
MSH6 ; FBXO11
1 2 47799309 frameshift variant -/G delins 0.700 1.000 2 2008 2014
dbSNP: rs1553413116
rs1553413116
MSH6 ; FBXO11
1 2 47799720 frameshift variant T/- delins 0.700 1.000 2 2011 2013
dbSNP: rs1553413424
rs1553413424
MSH6 ; FBXO11
1 2 47800033 frameshift variant C/- del 0.700 1.000 2 2008 2014