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: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.060 0.667 6 2006 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.050 0.800 5 2014 2018
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.050 0.600 5 2006 2018
dbSNP: rs29232
rs29232 		4 0.925 0.240 6 29643654 intergenic variant C/T snv 0.39 0.740 1.000 5 2009 2018
dbSNP: rs3869062
rs3869062
HLA-A
1 1.000 0.120 6 29967114 downstream gene variant A/G snv 5.5E-02 0.720 1.000 5 2009 2017
dbSNP: rs6774494
rs6774494
MECOM
4 0.882 0.160 3 169364845 intron variant G/A snv 0.42 0.740 1.000 5 2010 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.040 0.750 4 2013 2017
dbSNP: rs2517713
rs2517713
HLA-A
2 1.000 0.120 6 29950322 downstream gene variant G/A;T snv 0.710 1.000 4 2009 2015
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.040 0.500 4 2011 2018
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.040 1.000 4 2013 2018
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.040 1.000 4 2007 2016
dbSNP: rs9510787
rs9510787
TNFRSF19
2 1.000 0.120 13 23631056 intron variant A/G snv 0.20 0.730 1.000 4 2010 2018
dbSNP: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.030 1.000 3 2009 2014
dbSNP: rs1412829
rs1412829
CDKN2B-AS1
14 0.742 0.400 9 22043927 intron variant A/G snv 0.28 0.720 1.000 3 2010 2017
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.030 1.000 3 2013 2017
dbSNP: rs2860580
rs2860580
HLA-A
2 1.000 0.120 6 29938914 upstream gene variant A/C;G;T snv 0.720 1.000 3 2010 2017
dbSNP: rs2894207
rs2894207
HLA-B ; LINC02571
8 0.882 0.160 6 31295974 intron variant T/C snv 0.20 0.720 1.000 3 2010 2018
dbSNP: rs3129055
rs3129055 		2 1.000 0.120 6 29702484 regulatory region variant A/G snv 0.24 0.720 1.000 3 2009 2017
dbSNP: rs31489
rs31489
CLPTM1L
10 0.763 0.320 5 1342599 intron variant C/A snv 0.41 0.720 1.000 3 2010 2017
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.720 1.000 3 2010 2016
dbSNP: rs5009448
rs5009448
HLA-A
1 1.000 0.120 6 29972711 upstream gene variant T/C snv 0.74 0.700 1.000 3 2009 2012
dbSNP: rs9260734
rs9260734
HLA-A
1 1.000 0.120 6 29964889 intergenic variant G/A snv 0.22 0.700 1.000 3 2009 2012
dbSNP: rs13347
rs13347
CD44
12 0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv 0.020 1.000 2 2013 2014
dbSNP: rs16896923
rs16896923
ETF1P1 ; ZNRD1ASP
1 1.000 0.120 6 30032910 non coding transcript exon variant T/C snv 5.0E-02 0.710 1.000 2 2010 2017
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2013 2016