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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.938 32 2004 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.938 32 2004 2019
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.100 0.800 10 1997 2004
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 2004 2014
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.060 1.000 6 2012 2015
dbSNP: rs4939827
rs4939827
SMAD7
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.050 1.000 5 2008 2016
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 0.500 4 2005 2009
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.040 1.000 4 2015 2019
dbSNP: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.040 0.750 4 2008 2017
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.030 0.667 3 2005 2010
dbSNP: rs909797662
rs909797662
EGFR
8 0.790 0.120 7 55191837 missense variant G/A snv 0.030 1.000 3 2015 2018
dbSNP: rs1042821
rs1042821
MSH6
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.020 1.000 2 2009 2009
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2011 2016
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2008 2008
dbSNP: rs1017621656
rs1017621656
TGFB1
3 0.925 0.080 19 41352923 missense variant A/C;G snv 1.9E-05 0.010 1.000 1 2001 2001
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2006 2006
dbSNP: rs1044129
rs1044129
RYR3 ; AVEN
9 0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs1057519822
rs1057519822
MAP2K1
3 0.925 0.080 15 66481818 missense variant T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1060503118
rs1060503118
PMS2
2 0.925 0.080 7 5987422 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2008 2008
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2006 2006
dbSNP: rs1131691029
rs1131691029
TP53
6 0.827 0.160 17 7673794 missense variant C/G snv 0.010 1.000 1 2006 2006
dbSNP: rs11832059
rs11832059
VDR
2 0.925 0.080 12 47879066 missense variant A/C;G snv 4.0E-06; 1.9E-03 0.010 1.000 1 2009 2009