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: rs944289
rs944289
16 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 0.100 0.833 12 2010 2019
dbSNP: rs116909374
rs116909374
11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.030 1.000 3 2013 2019
dbSNP: rs10119760
rs10119760
1 1.000 0.080 9 97862320 intergenic variant G/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs13293512
rs13293512
11 0.763 0.360 9 94167461 intron variant T/C snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs1755787
rs1755787
1 1.000 0.080 14 36235879 upstream gene variant A/T snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1863347
rs1863347
1 1.000 0.080 14 36242363 intergenic variant G/A snv 0.77 0.010 1.000 1 2019 2019
dbSNP: rs2352326
rs2352326
1 1.000 0.080 X 91591642 intergenic variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs4733616
rs4733616
3 0.882 0.120 8 127649850 intergenic variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1800682
rs1800682
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs747894155
rs747894155
1 1.000 0.080 8 26770171 missense variant C/A;T snv 4.6E-06 0.010 1.000 1 2016 2016
dbSNP: rs765069734
rs765069734
1 1.000 0.080 2 96115436 synonymous variant G/A;C snv 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs79402775
rs79402775
5 0.827 0.200 2 175167648 mature miRNA variant G/A;T snv 4.4E-02; 1.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.030 1.000 3 2009 2016
dbSNP: rs373759
rs373759
3 0.882 0.120 11 108349930 intron variant C/T snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs609429
rs609429
1 1.000 0.080 11 108325782 intron variant G/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 0.959 387 2003 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.956 367 2003 2019
dbSNP: rs121913364
rs121913364
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.070 0.857 7 2004 2019
dbSNP: rs3748093
rs3748093
4 0.925 0.120 7 140800651 intron variant T/A snv 1.5E-02 0.020 1.000 2 2013 2016
dbSNP: rs11762469
rs11762469
2 1.000 0.080 7 140914412 intron variant A/G;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs121913375
rs121913375
7 0.851 0.240 7 140753339 missense variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1267636
rs1267636
1 1.000 0.080 7 140792239 intron variant T/C snv 0.11 0.010 < 0.001 1 2016 2016
dbSNP: rs17161747
rs17161747
1 1.000 0.080 7 140858940 intron variant G/C snv 5.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs17623204
rs17623204
1 1.000 0.080 7 140806604 intron variant T/A snv 5.5E-02 0.010 < 0.001 1 2016 2016