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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2007 2009
dbSNP: rs61764370
rs61764370
KRAS
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs1169803481
rs1169803481
EGFR
7 0.807 0.160 7 55198851 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2008 2008
dbSNP: rs2274223
rs2274223
PLCE1
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.010 < 0.001 1 2014 2014
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2010 2010
dbSNP: rs4078289
rs4078289
DCC
1 1.000 0.080 18 53020735 intron variant A/G snv 0.75 0.700 1.000 1 2012 2012
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2008 2008
dbSNP: rs779162432
rs779162432
PPIG
7 0.790 0.080 2 169637315 missense variant A/G snv 4.1E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1800855
rs1800855
CCKAR
2 0.925 0.120 4 26489495 intron variant A/G;T snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs3824260
rs3824260
CYP7A1
11 0.742 0.160 8 58500631 upstream gene variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs743572
rs743572
CYP17A1
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2010 2010
dbSNP: rs4940234
rs4940234
DCC
1 1.000 0.080 18 53012182 intron variant C/A snv 0.72 0.700 1.000 1 2012 2012
dbSNP: rs7504750
rs7504750
DCC
1 1.000 0.080 18 53021270 intron variant C/A snv 0.73 0.700 1.000 1 2012 2012
dbSNP: rs9944713
rs9944713
DCC
1 1.000 0.080 18 53008042 intron variant C/A snv 0.72 0.700 1.000 1 2012 2012
dbSNP: rs28934571
rs28934571
TP53
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.010 < 0.001 1 2017 2017
dbSNP: rs2303426
rs2303426
MSH2
8 0.790 0.080 2 47403411 intron variant C/A;G;T snv 1.9E-05; 0.47 0.010 1.000 1 2011 2011
dbSNP: rs4148217
rs4148217
ABCG8
11 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2007 2009
dbSNP: rs20575
rs20575
TNFRSF10A
29 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 0.010 1.000 1 2014 2014