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 0.020 1.000 2 2011 2015
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 < 0.001 1 2019 2019
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: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.010 1.000 1 2019 2019
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: rs2165241
rs2165241
LOXL1 ; LOXL1-AS1
15 0.716 0.360 15 73929861 intron variant T/C snv 0.60 0.030 1.000 3 2008 2015
dbSNP: rs3825942
rs3825942
LOXL1 ; LOXL1-AS1
15 0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06 0.020 1.000 2 2008 2015
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.010 < 0.001 1 2015 2015
dbSNP: rs1048661
rs1048661
LOXL1 ; LOXL1-AS1
14 0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 0.010 1.000 1 2008 2008
dbSNP: rs2070074
rs2070074
GALT
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.010 1.000 1 2003 2003
dbSNP: rs1135401778
rs1135401778
BPTF
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs104894201
rs104894201
CRYAB
12 0.763 0.280 11 111908934 missense variant T/C snv 0.040 1.000 4 2011 2019
dbSNP: rs1064796765
rs1064796765
DYNC1H1
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
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: rs1050828
rs1050828
G6PD
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 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: 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: 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: rs863225045
rs863225045
ALDH18A1
15 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
dbSNP: rs28931605
rs28931605
CRYGD ; LOC100507443
6 0.807 0.200 2 208124294 missense variant G/A;T snv 4.2E-06; 1.3E-05 0.060 1.000 6 2005 2019
dbSNP: rs150516929
rs150516929
CRYAB
8 0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 0.020 1.000 2 2010 2017
dbSNP: rs1063147
rs1063147
BLM
6 0.807 0.120 15 90811275 synonymous variant C/T snv 0.15 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: rs587778872
rs587778872
CRYGC ; LOC100507443
6 0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06 0.010 1.000 1 2017 2017