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: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.100 0.800 10 2004 2019
dbSNP: rs766295553
rs766295553
XPNPEP3 ; DNAJB7
2 22 40861433 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs2607775
rs2607775
XPC ; LSM3
8 0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 0.010 1.000 1 2019 2019
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.050 1.000 5 2008 2019
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.030 1.000 3 2008 2014
dbSNP: rs767551092
rs767551092
XPC
10 0.790 0.200 3 14164838 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2808668
rs2808668
XPA
7 0.851 0.120 9 97690153 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12918952
rs12918952
WWOX
7 0.851 0.120 16 78386878 missense variant G/A;C;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs3764340
rs3764340
WWOX
9 0.807 0.280 16 78432540 missense variant C/G snv 7.1E-02 7.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs16754
rs16754
WT1
15 0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 0.020 1.000 2 2011 2011
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 1.000 1 2016 2016
dbSNP: rs200956178
rs200956178
WDTC1
2 1 27303662 missense variant C/T snv 4.1E-06; 1.6E-05 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs1478161644
rs1478161644
WDHD1
1 14 55008696 missense variant T/C snv 0.010 < 0.001 1 2011 2011
dbSNP: rs2294757
rs2294757
VNN1
3 6 132713959 missense variant G/A snv 0.45 0.53 0.010 1.000 1 2013 2013
dbSNP: rs780178275
rs780178275
VHL
7 0.851 0.200 3 10146586 missense variant C/T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs17697305
rs17697305
VEGFC ; LOC105377555
2 4 176685497 intron variant T/C snv 2.4E-02 0.010 1.000 1 2010 2010
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.030 1.000 3 2014 2018
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2014 2014
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.040 1.000 4 2007 2018
dbSNP: rs749140677
rs749140677
VDR
13 0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs550741064
rs550741064
VCL
2 10 74111961 missense variant C/T snv 4.0E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs9377188
rs9377188
UST ; LOC105378047
1 6 149030245 intron variant C/G;T snv 0.700 1.000 1 2017 2017