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: rs2267437
rs2267437
XRCC6 ; DESI1
19 0.724 0.320 22 41620695 intron variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs3835
rs3835
XRCC5
4 0.882 0.120 2 216201914 intron variant G/A snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs1800975
rs1800975
XPA
19 0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs387906717
rs387906717
WAS
6 0.827 0.120 X 48688403 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2016 2016
dbSNP: rs781517199
rs781517199
UBE2V1 ; TMEM189-UBE2V1
1 20 50082788 missense variant C/G snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1464681682
rs1464681682
U2AF1L5 ; LOC102724701 ; LOC102724843
6 0.882 0.160 21 6486334 missense variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs371769427
rs371769427
U2AF1
24 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.850 1.000 7 2013 2019
dbSNP: rs371246226
rs371246226
U2AF1
8 0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05 0.710 1.000 2 2011 2015
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2012 2015
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 0.667 3 2012 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 0.667 3 2012 2015
dbSNP: rs1057520007
rs1057520007
TP53
21 0.701 0.440 17 7674917 missense variant T/A;C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1131691041
rs1131691041
TP53
3 17 7676271 frameshift variant -/A delins 0.010 1.000 1 2017 2017
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs72661120
rs72661120
TP53
1 17 7673717 synonymous variant T/C snv 2.7E-04 7.0E-05 0.010 1.000 1 2001 2001
dbSNP: rs8179090
rs8179090
TIMP2
12 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs12498609
rs12498609
TET2 ; TET2-AS1
1 4 105234028 missense variant C/G;T snv 6.3E-02; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2454206
rs2454206
TET2 ; TET2-AS1
6 0.851 0.160 4 105275794 missense variant A/G;T snv 0.30; 6.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs4135113
rs4135113
TDG
5 0.925 0.080 12 103982915 missense variant G/A;C;T snv 4.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs4898
rs4898
SYN1 ; TIMP1 ; MIR4769
25 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 0.010 1.000 1 2016 2016
dbSNP: rs751713049
rs751713049
SRSF2 ; MFSD11 ; MIR636
5 0.851 0.200 17 76736877 missense variant G/A;C;T snv 6.3E-05; 2.9E-05; 1.2E-04 0.020 1.000 2 2016 2019
dbSNP: rs1057519960
rs1057519960
SF3B2
7 0.827 0.280 11 66063413 missense variant A/G snv 0.700 1.000 1 2016 2016