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: rs873601
rs873601
ERCC5 ; BIVM-ERCC5
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2015 2015
dbSNP: rs1799794
rs1799794
KLC1 ; XRCC3
12 0.763 0.320 14 103712930 splice region variant T/C snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs9419958
rs9419958
STN1
5 0.851 0.040 10 103916188 intron variant T/C snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs7907606
rs7907606 		8 0.790 0.120 10 103920874 upstream gene variant T/G snv 0.26 0.700 1.000 2 2018 2019
dbSNP: rs7913069
rs7913069
LOC102724351
2 1.000 10 103954641 intergenic variant C/T snv 7.0E-02 0.810 1.000 2 2011 2017
dbSNP: rs1800057
rs1800057
ATM
11 0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs141379009
rs141379009
ATM
2 1.000 11 108278480 intron variant T/G snv 1.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.700 1.000 1 2018 2018
dbSNP: rs149934734
rs149934734
C11orf65
2 1.000 11 108444879 intron variant C/T snv 1.6E-02 0.700 1.000 2 2018 2019
dbSNP: rs72993806
rs72993806
POGLUT3
2 1.000 11 108488962 intron variant C/G snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs3808350
rs3808350
GPER1 ; C7orf50
6 0.882 0.080 7 1086257 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3808351
rs3808351
GPER1 ; C7orf50
7 0.827 0.240 7 1087023 5 prime UTR variant G/A snv 0.29 0.010 1.000 1 2016 2016
dbSNP: rs3951242
rs3951242
SLC66A3
2 1.000 2 11166852 intron variant G/A snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs148143917
rs148143917
GREB1
2 1.000 2 11524625 intron variant A/C snv 9.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs35417544
rs35417544
GREB1 ; MIR4429
2 1.000 2 11540277 intron variant C/T snv 0.59 0.700 1.000 1 2019 2019
dbSNP: rs10929757
rs10929757
GREB1
2 1.000 2 11562535 missense variant A/C snv 0.54 0.44 0.700 1.000 1 2018 2018
dbSNP: rs2270206
rs2270206 		2 1.000 7 117273513 downstream gene variant C/A snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs62115045
rs62115045
MIR3681HG
2 1.000 2 11961997 intron variant G/A snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs28583837
rs28583837 		2 1.000 12 123379073 upstream gene variant G/A snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs72709458
rs72709458
TERT
5 0.882 0.040 5 1283640 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2853676
rs2853676
TERT
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs12392108
rs12392108 		2 1.000 X 132180234 intergenic variant T/A snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 < 0.001 1 2019 2019