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: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2016 2016
dbSNP: rs1408080623
rs1408080623
PGR ; PGR-AS1
5 0.851 0.080 11 101128058 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2018 2018
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 1.000 1 2016 2016
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 2016 2016
dbSNP: rs2291738
rs2291738
TIMELESS
8 0.807 0.160 12 56421497 splice region variant T/C snv 0.43 0.39 0.010 1.000 1 2012 2012
dbSNP: rs2976392
rs2976392
PSCA ; JRK
15 0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45 0.010 1.000 1 2016 2016
dbSNP: rs2978974
rs2978974
PSCA ; JRK
7 0.790 0.200 8 142670446 non coding transcript exon variant G/A snv 0.38 0.010 1.000 1 2016 2016
dbSNP: rs362962
rs362962
GRM1
4 0.882 0.080 6 146312682 intron variant T/C snv 0.39 0.010 1.000 1 2013 2013
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2015 2015
dbSNP: rs4849887
rs4849887 		7 0.807 0.080 2 120487546 intergenic variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs50872
rs50872
ERCC2
5 0.827 0.120 19 45359191 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs614367
rs614367 		4 0.882 0.080 11 69513996 intergenic variant C/T snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs6828523
rs6828523
ADAM29
4 0.851 0.080 4 174925275 intron variant C/A snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs7302060
rs7302060
TIMELESS
3 0.882 0.080 12 56435308 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.010 1.000 1 2013 2013