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: rs28903090
rs28903090
RAD50
2 0.925 0.120 5 132587981 missense variant G/T snv 1.2E-03 1.4E-03 0.010 1.000 1 2013 2013
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: 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: rs3742330
rs3742330
DICER1
24 0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 0.010 1.000 1 2015 2015
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: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
22 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2016 2016
dbSNP: rs4253211
rs4253211
ERCC6
3 0.882 0.240 10 49470271 missense variant C/G;T snv 7.1E-02; 2.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs4646903
rs4646903
CYP1A1
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.010 1.000 1 2016 2016
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: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2013 2013
dbSNP: rs4975616
rs4975616 		12 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 0.010 1.000 1 2017 2017
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: rs56161233
rs56161233
SH3BP4
2 0.925 0.120 2 235055489 3 prime UTR variant C/T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs5744455
rs5744455
CD14 ; TMCO6
5 0.882 0.160 5 140633722 upstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6464211
rs6464211
KMT2C
2 0.925 0.160 7 152176768 synonymous variant C/T snv 0.24 0.34 0.010 1.000 1 2016 2016
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: rs748148861
rs748148861
CCR6
2 0.925 0.120 6 167136856 missense variant G/C snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs820196
rs820196
RECQL5 ; SMIM5
6 0.807 0.160 17 75631459 missense variant T/A;C snv 1.6E-05; 0.26 0.010 1.000 1 2014 2014
dbSNP: rs865789884
rs865789884
TNFRSF10D
2 0.925 0.120 8 23145778 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2009 2009
dbSNP: rs989902
rs989902
PTPN13
12 0.742 0.240 4 86785353 missense variant T/G snv 0.42 0.53 0.010 1.000 1 2009 2009