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: rs1799778
rs1799778
XRCC1
1 1.000 0.120 19 43554989 intron variant G/T snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs1816158
rs1816158
MIR100HG
3 0.925 0.200 11 122155752 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3213282
rs3213282
XRCC1
3 0.882 0.160 19 43568728 intron variant G/C snv 0.57 0.010 1.000 1 2014 2014
dbSNP: rs3810378
rs3810378
XRCC1 ; PINLYP
3 1.000 0.120 19 43577449 intron variant G/C snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs4725443
rs4725443
KMT2C
2 0.925 0.120 7 152170176 intron variant T/C snv 9.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs4789223
rs4789223
RECQL5 ; SMIM6
4 0.851 0.120 17 75645819 intron variant G/A snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs50871
rs50871
ERCC2
2 0.925 0.120 19 45359257 intron variant C/A snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs6877842
rs6877842
DROSHA ; C5orf22
7 0.807 0.320 5 31532531 intron variant G/C snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs6943984
rs6943984
KMT2C
2 0.925 0.120 7 152201919 intron variant G/A snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 1.000 2 2014 2016
dbSNP: rs34301344
rs34301344
ARL11
22 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 0.010 < 0.001 1 2006 2006
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.030 1.000 3 2014 2016
dbSNP: rs61754966
rs61754966
NBN
23 0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 0.030 1.000 3 2007 2013
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.030 1.000 3 2014 2016
dbSNP: rs1056827
rs1056827
CYP1B1 ; CYP1B1-AS1
24 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.020 1.000 2 2014 2015
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 1.000 2 2014 2014
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2016 2016
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 2009 2009
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2011 2011
dbSNP: rs148704956
rs148704956
IL17A
19 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2016 2016
dbSNP: rs1864183
rs1864183
ATG10
12 0.742 0.240 5 82253397 missense variant C/T snv 0.52 0.40 0.010 1.000 1 2017 2017