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: rs587778618
rs587778618
PMS2
2 7 5987078 stop gained G/A;T snv 8.0E-06; 1.2E-05 0.700 1.000 3 2010 2016
dbSNP: rs587782336
rs587782336
PMS2
2 7 5982993 splice acceptor variant T/G snv 6.3E-06 0.700 1.000 3 2011 2014
dbSNP: rs786202098
rs786202098
PMS2
2 7 6002638 splice acceptor variant T/C snv 0.700 1.000 3 2011 2016
dbSNP: rs1060502039
rs1060502039
MSH2
1 2 47475060 frameshift variant T/- delins 0.700 1.000 2 2005 2014
dbSNP: rs1060503137
rs1060503137
PMS2
2 7 5986900 frameshift variant TA/- delins 0.700 1.000 2 2012 2013
dbSNP: rs1064794075
rs1064794075
MSH6
2 2 47783495 splice donor variant TA/AG mnv 0.700 1.000 2 2008 2014
dbSNP: rs1064795329
rs1064795329
MSH2
1 2 47475021 splice acceptor variant AGGCTATGTAGAACCAATGCAGACAC/- delins 0.700 1.000 2 2005 2014
dbSNP: rs1114167723
rs1114167723
MSH6 ; FBXO11
2 2 47805617 splice acceptor variant G/C;T snv 0.700 1.000 2 2008 2014
dbSNP: rs1114167725
rs1114167725
MSH6 ; FBXO11
2 2 47798609 splice acceptor variant A/G snv 7.0E-06 0.700 1.000 2 2008 2014
dbSNP: rs1114167841
rs1114167841
MSH2
2 2 47480690 splice acceptor variant TTATA/- del 7.0E-06 0.700 1.000 2 2005 2014
dbSNP: rs1114167845
rs1114167845
MSH2
2 2 47414416 stop gained C/A;T snv 0.700 1.000 2 2010 2012
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
dbSNP: rs1553644277
rs1553644277
MLH1
1 3 37012101 splice donor variant T/C snv 0.700 1.000 2 2005 2014
dbSNP: rs1553662800
rs1553662800
MLH1
1 3 37047572 frameshift variant -/CCAGATAGTCCAGA ins 0.700 1.000 2 2005 2014
dbSNP: rs1554297040
rs1554297040
PMS2
1 7 5986758 splice donor variant C/G;T snv 0.700 1.000 2 2011 2014
dbSNP: rs1554300689
rs1554300689
PMS2
2 7 5995533 splice donor variant C/A;G snv 0.700 1.000 2 2011 2014
dbSNP: rs1558390582
rs1558390582
MSH6 ; FBXO11
1 2 47805616 splice acceptor variant A/T snv 0.700 1.000 2 2008 2014
dbSNP: rs1562604682
rs1562604682
PMS2
1 7 5978594 splice donor variant A/G snv 0.700 1.000 2 2011 2014