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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs13078
rs13078
DICER1
5 0.827 0.280 14 95090410 3 prime UTR variant A/T snv 0.85 0.010 1.000 1 2015 2015
dbSNP: rs2230600
rs2230600
PTPN13
5 0.827 0.160 4 86769845 missense variant A/G snv 0.18 0.14 0.010 1.000 1 2009 2009
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: 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: 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: rs115160714
rs115160714
TOPBP1
9 0.807 0.200 3 133601021 3 prime UTR variant G/A snv 5.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs28366003
rs28366003
MT2A
10 0.763 0.240 16 56608579 upstream gene variant A/C;G snv 4.6E-02 0.010 1.000 1 2014 2014
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
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: 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
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