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: 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: rs746702110
rs746702110
OGG1
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2009 2009
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: 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: 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: 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: 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: 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: rs17577
rs17577
MMP9 ; SLC12A5-AS1
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 < 0.001 1 2014 2014
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.010 < 0.001 1 2014 2014
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: rs909629195
rs909629195
LASP1 ; MIR6779
7 0.790 0.080 17 38914448 missense variant C/T snv 0.010 1.000 1 2016 2016
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: 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: rs1444424830
rs1444424830
FASTK
7 0.790 0.080 7 151078923 missense variant C/T snv 4.6E-06 7.0E-06 0.010 < 0.001 1 2014 2014
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: 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: 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: 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: 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: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.030 0.667 3 2007 2014
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: 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: rs4791171
rs4791171
AXIN2
11 0.763 0.080 17 65545379 intron variant T/C snv 0.55 0.010 1.000 1 2016 2016