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: rs760943842
rs760943842
ZNF436
5 0.851 0.080 1 23362976 missense variant G/A snv 4.0E-05 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs2131877
rs2131877
XXYLT1
6 0.827 0.080 3 195137645 intron variant G/A snv 0.20 0.800 1.000 1 2010 2010
dbSNP: rs2267437
rs2267437
XRCC6 ; DESI1
19 0.724 0.320 22 41620695 intron variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs3835
rs3835
XRCC5
4 0.882 0.120 2 216201914 intron variant G/A snv 0.21 0.020 1.000 2 2009 2012
dbSNP: rs6869366
rs6869366
XRCC4 ; TMEM167A
18 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 0.020 1.000 2 2012 2013
dbSNP: rs1056503
rs1056503
XRCC4
4 0.851 0.200 5 83353158 synonymous variant T/A;G snv 4.0E-06; 0.23 0.010 1.000 1 2013 2013
dbSNP: rs1805377
rs1805377
XRCC4
19 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 0.010 1.000 1 2009 2009
dbSNP: rs28360071
rs28360071
XRCC4
18 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 0.010 1.000 1 2012 2012
dbSNP: rs9293337
rs9293337
XRCC4
1 1.000 0.080 5 83359290 intergenic variant C/T snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.960 25 2004 2017
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.100 1.000 11 2012 2017
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 0.750 4 2006 2016
dbSNP: rs1001581
rs1001581
XRCC1
1 1.000 0.080 19 43561236 intron variant C/T snv 0.38 0.010 1.000 1 2010 2010
dbSNP: rs1436873982
rs1436873982
XRCC1
2 0.925 0.200 19 43552212 missense variant G/A snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2293036
rs2293036
XRCC1
1 1.000 0.080 19 43553896 intron variant G/A snv 7.0E-02 0.010 1.000 1 2010 2010
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 2010 2010
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 0.020 1.000 2 2011 2015
dbSNP: rs17152930
rs17152930
XKR6
1 1.000 0.080 8 11153316 intron variant G/A snv 4.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs2269577
rs2269577
XBP1 ; ZNRF3
4 0.882 0.120 22 28800769 non coding transcript exon variant G/C snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs4134816
rs4134816
XAB2 ; PET100
1 1.000 0.080 19 7628865 intron variant A/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs794078
rs794078
XAB2
1 1.000 0.080 19 7620957 synonymous variant G/A snv 0.18 0.18 0.010 1.000 1 2015 2015
dbSNP: rs3910384
rs3910384
WEE1
1 1.000 0.080 11 9578396 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2239144
rs2239144
VWF
1 1.000 0.080 12 6087017 intron variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs73049469
rs73049469
VWF
1 1.000 0.080 12 5965306 intron variant C/A snv 0.14 0.010 1.000 1 2019 2019