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: rs1021631442
rs1021631442
MSH6 ; FBXO11
3 0.882 0.200 2 47806279 missense variant G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs1553413710
rs1553413710
MSH6 ; FBXO11
3 0.882 0.200 2 47800325 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs63751012
rs63751012
MLH1 ; EPM2AIP1
5 0.851 0.200 3 36993656 stop gained G/A;C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1553368590
rs1553368590
MSH2
3 0.882 0.200 2 47475097 missense variant T/A snv 0.700 0
dbSNP: rs786202497
rs786202497
CHEK2
4 0.882 0.200 22 28719423 frameshift variant C/- del 0.700 0
dbSNP: rs864622607
rs864622607
MSH6 ; FBXO11
3 0.882 0.200 2 47803678 missense variant T/G snv 0.700 0
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 1999 2000
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.020 1.000 2 1999 2000
dbSNP: rs2854746
rs2854746
IGFBP3
14 0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38 0.020 1.000 2 2010 2010
dbSNP: rs1042821
rs1042821
MSH6
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.010 1.000 1 2006 2006
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2001 2001
dbSNP: rs1198119472
rs1198119472
GSTA1
2 0.925 0.120 6 52799190 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2005 2005
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs1799977
rs1799977
MLH1
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2006 2006
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2019 2019
dbSNP: rs2229765
rs2229765
IGF1R
7 0.807 0.280 15 98934996 synonymous variant G/A snv 0.40 0.39 0.010 1.000 1 2010 2010
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2011 2011
dbSNP: rs2665802
rs2665802
CSHL1 ; GH1 ; LOC112268204
4 0.925 0.120 17 63917670 intron variant A/G;T snv 0.32 0.010 1.000 1 2010 2010
dbSNP: rs267608022
rs267608022
MSH2
2 0.925 0.200 2 47482858 missense variant C/G;T snv 8.0E-06; 8.4E-05 0.010 1.000 1 1996 1996
dbSNP: rs2854744
rs2854744
IGFBP3
20 0.695 0.520 7 45921476 intron variant G/T snv 0.48 0.010 1.000 1 2010 2010
dbSNP: rs35352891
rs35352891
MUTYH
5 0.827 0.200 1 45331729 missense variant G/A snv 3.8E-04 1.1E-04 0.010 1.000 1 2007 2007
dbSNP: rs35767
rs35767
IGF1 ; LOC105369944
13 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs529008617
rs529008617
MUTYH
7 0.851 0.160 1 45331529 missense variant G/A snv 7.2E-05 2.8E-05 0.010 1.000 1 2012 2012