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: 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 2016 2016
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 2016 2016
dbSNP: rs17868323
rs17868323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
2 0.925 0.160 2 233682324 missense variant T/A;G snv 0.59 0.010 1.000 1 2002 2002
dbSNP: rs386656364
rs386656364
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
8 0.807 0.160 2 233682328 missense variant CG/AA mnv 0.010 1.000 1 2002 2002
dbSNP: rs771314938
rs771314938
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
8 0.807 0.160 2 233682328 frameshift variant CG/- del 0.010 1.000 1 2002 2002
dbSNP: rs879625015
rs879625015
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
8 0.807 0.160 2 233682328 frameshift variant CG/A delins 0.010 1.000 1 2002 2002
dbSNP: rs11479
rs11479
TYMP ; SCO2
2 0.925 0.080 22 50525807 stop gained G/A;C;T snv 0.13; 1.3E-05; 4.3E-06 0.010 1.000 1 2014 2014
dbSNP: rs760043106
rs760043106
TP53
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.010 1.000 1 2008 2008
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 1.000 2 2013 2013
dbSNP: rs2043556
rs2043556
PRKG1 ; MIR605
17 0.716 0.440 10 51299646 non coding transcript exon variant T/C snv 0.25 0.24 0.010 1.000 1 2012 2012
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 < 0.001 1 2017 2017
dbSNP: rs2274223
rs2274223
PLCE1
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.020 1.000 2 2012 2013
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2015 2015
dbSNP: rs6505162
rs6505162
NSRP1 ; MIR423 ; MIR3184
25 0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1131341
rs1131341
NQO1
4 0.925 0.160 16 69714966 missense variant G/A;C snv 3.2E-02 2.6E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 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 2013 2013
dbSNP: rs17224367
rs17224367
MSH2
3 0.882 0.160 2 47429833 missense variant C/G;T snv 1.5E-03 0.010 1.000 1 2006 2006
dbSNP: rs63750006
rs63750006
MSH2
3 0.882 0.160 2 47429920 stop gained C/A;G;T snv 5.5E-04; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs63750070
rs63750070
MSH2
3 0.882 0.160 2 47410245 missense variant T/C;G snv 0.010 1.000 1 2006 2006
dbSNP: rs63750228
rs63750228
MSH2
1 1.000 0.080 2 47429926 missense variant C/A;G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs63751067
rs63751067
MSH2
1 1.000 0.080 2 47410244 frameshift variant CTAGGACTGTGT/A delins 0.010 1.000 1 2006 2006
dbSNP: rs2839698
rs2839698
MRPL23 ; H19 ; MIR675
25 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs63750447
rs63750447
MLH1
17 0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 0.020 0.500 2 2007 2019