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 0.030 1.000 3 2013 2015
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.020 1.000 2 2013 2018
dbSNP: rs139834892
rs139834892
XRCC1
3 0.882 0.040 19 43553481 missense variant C/T snv 6.4E-05 1.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2015 2015
dbSNP: rs749140677
rs749140677
VDR
13 0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs10251201
rs10251201
UMAD1
4 0.851 0.160 7 7932654 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs371769427
rs371769427
U2AF1
24 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 < 0.001 2 2012 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 < 0.001 2 2012 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 < 0.001 2 2012 2016
dbSNP: rs587782006
rs587782006
TP53
2 0.925 0.040 17 7673761 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs174538
rs174538
TMEM258 ; FEN1 ; MIR611
21 0.701 0.440 11 61792609 5 prime UTR variant G/A snv 0.34 0.26 0.010 < 0.001 1 2016 2016
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2011 2011
dbSNP: rs2853677
rs2853677
TERT
19 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs11079041
rs11079041
STAT5B
4 0.882 0.040 17 42262061 intron variant T/A;C snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs1360131632
rs1360131632
STAT5A
6 0.827 0.080 17 42301316 missense variant C/T snv 4.0E-06 0.030 1.000 3 2004 2018
dbSNP: rs1416364034
rs1416364034
STAT5A
1 1.000 0.040 17 42300731 missense variant G/A snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs2293157
rs2293157
STAT5A
9 0.763 0.120 17 42300657 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs17886724
rs17886724
STAT3
2 0.925 0.040 17 42344145 intron variant A/G snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs762613037
rs762613037
SLC19A1 ; COL18A1
7 0.790 0.160 21 45512196 missense variant A/G snv 2.1E-05 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2001 2001
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs1979277
rs1979277
SHMT1
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.010 < 0.001 1 2014 2014