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: rs1423415130
rs1423415130
XYLT2
6 0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2011 2015
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2016 2016
dbSNP: rs11574311
rs11574311
WRN
8 0.776 0.160 8 31119144 intron variant T/C snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs2725338
rs2725338
WRN
7 0.790 0.120 8 31042501 intron variant G/A snv 7.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs2725383
rs2725383
WRN
6 0.807 0.120 8 31075099 intron variant C/G snv 0.76 0.010 1.000 1 2013 2013
dbSNP: rs4733220
rs4733220
WRN
6 0.807 0.120 8 31043374 intron variant A/G snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs1339616347
rs1339616347
WRN
6 0.925 0.120 8 31068328 splice donor variant G/T snv 0.700 0
dbSNP: rs1305547785
rs1305547785
VIM ; VIM-AS1
1 1.000 0.040 10 17229759 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs370424081
rs370424081
UNC45B
2 0.925 0.040 17 35183460 missense variant C/G;T snv 6.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs5030732
rs5030732
UCHL1 ; UCHL1-AS1
10 0.790 0.160 4 41257616 missense variant C/A snv 0.24 0.16 0.010 < 0.001 1 2011 2011
dbSNP: rs727502810
rs727502810
TUB ; RIC3
8 0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 0.700 0
dbSNP: rs78378222
rs78378222
TP53
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.010 1.000 1 2016 2016
dbSNP: rs2101521
rs2101521
TLR1
3 0.925 0.080 4 38809930 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs17047586
rs17047586
TAFA1
2 0.925 0.120 3 68363724 intron variant A/G snv 8.6E-03 0.010 1.000 1 2010 2010
dbSNP: rs778791846
rs778791846
SMO
4 0.851 0.200 7 129210515 missense variant C/T snv 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs33972313
rs33972313
SLC23A1
8 0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs6596473
rs6596473
SLC23A1
7 0.807 0.120 5 139374887 intron variant G/C;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
4 0.882 0.080 21 45509554 stop gained C/T snv 0.700 0
dbSNP: rs375713569
rs375713569
SDS
2 0.925 0.040 12 113398748 missense variant G/A;C snv 3.6E-05; 1.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs142285818
rs142285818
RHO
11 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
dbSNP: rs11129182
rs11129182
RARB
2 0.925 0.120 3 25129806 intron variant T/C snv 0.82 0.010 1.000 1 2010 2010
dbSNP: rs644242
rs644242
PAX6
3 0.882 0.040 11 31791253 non coding transcript exon variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs80338829
rs80338829
MYH9
5 0.851 0.200 22 36295069 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.010 1.000 1 2019 2019