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: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2009 2009
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2010 2010
dbSNP: rs2695121
rs2695121
NR1H2
16 0.716 0.280 19 50377484 5 prime UTR variant T/C snv 0.70 0.020 < 0.001 2 2013 2014
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: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2011 2011
dbSNP: rs1126497
rs1126497
EPCAM
14 0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58 0.010 1.000 1 2016 2016
dbSNP: rs4791171
rs4791171
AXIN2
11 0.763 0.080 17 65545379 intron variant T/C snv 0.55 0.010 1.000 1 2016 2016
dbSNP: rs3808607
rs3808607
CYP7A1
16 0.716 0.400 8 58500365 upstream gene variant G/T snv 0.55 0.010 1.000 1 2010 2010
dbSNP: rs11954856
rs11954856
APC
12 0.732 0.200 5 112751630 intron variant T/G snv 0.54 0.010 1.000 1 2016 2016
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: rs763110
rs763110
FASLG
30 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 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: 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
dbSNP: rs13959
rs13959
ALDH1A1
7 0.790 0.080 9 72930966 synonymous variant G/A snv 0.48 0.42 0.010 1.000 1 2016 2016
dbSNP: rs7922612
rs7922612
PLCE1
14 0.752 0.080 10 94051682 intron variant C/T snv 0.39 0.010 < 0.001 1 2014 2014
dbSNP: rs7120118
rs7120118
NR1H3
18 0.716 0.360 11 47264739 intron variant T/C snv 0.38 0.010 < 0.001 1 2013 2013
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2010 2010
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: rs35463555
rs35463555
NR1H2
8 0.776 0.160 19 50374423 intron variant G/A snv 0.29 0.010 < 0.001 1 2013 2013
dbSNP: rs2072668
rs2072668
OGG1
14 0.732 0.280 3 9756456 intron variant C/G snv 0.28 0.24 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: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2011 2011
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: rs2486758
rs2486758
CYP17A1
11 0.742 0.160 10 102837723 upstream gene variant T/C snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1157
rs1157
ALCAM
7 0.790 0.080 3 105576617 3 prime UTR variant G/A snv 0.16 0.010 1.000 1 2016 2016