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: rs12484951
rs12484951
2 1.000 22 40307071 intron variant T/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs12638862
rs12638862
10 0.827 0.160 3 169759718 downstream gene variant A/G snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs12640488
rs12640488
2 1.000 4 69735020 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs138420351
rs138420351
3 1.000 17 7796745 intron variant C/T snv 9.6E-03 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: rs142274555
rs142274555
2 1.000 4 48034600 intron variant T/C snv 3.3E-04 0.700 1.000 1 2018 2018
dbSNP: rs143094271
rs143094271
2 1.000 17 7559785 intron variant G/A snv 1.4E-02 1.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs148143917
rs148143917
2 1.000 2 11524625 intron variant A/C snv 9.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs149787529
rs149787529
2 1.000 4 52165349 intergenic variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs17361789
rs17361789
2 1.000 1 172153461 intron variant T/A;G snv 0.700 1.000 1 2019 2019
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: 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: rs1812264
rs1812264
2 1.000 9 805427 intergenic variant T/G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs183241934
rs183241934
2 1.000 4 53140760 intron variant A/C snv 5.0E-04 0.700 1.000 1 2018 2018
dbSNP: rs188539274
rs188539274
2 1.000 4 52893799 intron variant C/T snv 1.4E-03 0.700 1.000 1 2018 2018
dbSNP: rs191692776
rs191692776
2 1.000 4 53718356 intron variant C/T snv 5.3E-04 0.700 1.000 1 2018 2018
dbSNP: rs2131371
rs2131371
3 1.000 12 46402739 intron variant A/C snv 0.77 0.700 1.000 1 2019 2019
dbSNP: rs2202282
rs2202282
2 1.000 4 69768723 intron variant C/T snv 0.42 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: rs2280543
rs2280543
3 0.925 0.080 11 203788 3 prime UTR variant C/T snv 4.7E-02 0.700 1.000 1 2011 2011
dbSNP: rs2456181
rs2456181
2 1.000 5 177023836 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2732552
rs2732552
3 0.925 0.080 11 35063045 regulatory region variant T/C snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs2785152
rs2785152
2 1.000 11 35048521 intergenic variant C/T snv 0.64 0.700 1.000 1 2018 2018
dbSNP: rs2785202
rs2785202
2 1.000 11 35063288 regulatory region variant G/C snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs2853676
rs2853676
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.700 1.000 1 2019 2019