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: 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 2014 2014
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 2014 2014
dbSNP: rs9485372
rs9485372
TAB2
6 0.807 0.120 6 149287738 intron variant G/A snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs4784227
rs4784227
CASC16
8 0.807 0.160 16 52565276 intron variant C/T snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs13000023
rs13000023
LOC101928278 ; LOC105373873
4 0.851 0.080 2 217059671 downstream gene variant G/A;C;T snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.020 1.000 2 2011 2012
dbSNP: rs1054135
rs1054135
FABP4 ; LOC101927118
5 0.851 0.240 8 81478525 3 prime UTR variant C/T snv 0.17 0.010 1.000 1 2016 2016
dbSNP: rs999737
rs999737
RAD51B
8 0.776 0.200 14 68567965 intron variant C/T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs1726801
rs1726801
POLD1
4 0.851 0.080 19 50401817 missense variant G/A snv 0.11 0.14 0.010 1.000 1 2014 2014
dbSNP: rs7250266
rs7250266
BABAM1 ; USHBP1
2 0.925 0.080 19 17266803 intron variant C/G snv 8.5E-02 0.010 1.000 1 2016 2016
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 2014 2014
dbSNP: rs1800067
rs1800067
ERCC4
17 0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs2228014
rs2228014
CXCR4
14 0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs3734091
rs3734091
XRCC4
19 0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs16999593
rs16999593
DNMT1
14 0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs56391007
rs56391007
MET
16 0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs121913016
rs121913016
ERCC2
5 0.827 0.160 19 45357368 missense variant G/C snv 1.2E-03 4.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs72631823
rs72631823
MIR34A ; MIR34AHG
2 0.925 0.080 1 9151723 non coding transcript exon variant C/T snv 1.2E-04 4.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs527779103
rs527779103
ERBB2
2 0.925 0.080 17 39708528 missense variant C/T snv 5.4E-04 1.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs750040814
rs750040814
XPC
5 0.827 0.160 3 14158639 missense variant C/T snv 1.6E-05 5.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs769772228
rs769772228
CXCR4
2 0.925 0.080 2 136115346 missense variant C/G snv 2.0E-05 4.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs587781948
rs587781948
BARD1
5 0.882 0.200 2 214730491 stop gained G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs587780021
rs587780021
BARD1
6 0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05 0.010 1.000 1 2016 2016
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 2014 2014