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: rs10993994
rs10993994
15 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.800 1.000 37 2008 2020
dbSNP: rs1447295
rs1447295
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.800 0.914 35 2007 2019
dbSNP: rs138213197
rs138213197
24 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 0.800 0.938 32 2012 2019
dbSNP: rs6983267
rs6983267
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.800 0.871 31 2007 2019
dbSNP: rs16901979
rs16901979
17 0.724 0.480 8 127112671 intron variant C/A snv 0.16 0.800 0.955 22 2007 2019
dbSNP: rs4430796
rs4430796
14 0.790 0.280 17 37738049 intron variant A/G snv 0.52 0.800 1.000 21 2007 2019
dbSNP: rs2735839
rs2735839
7 0.827 0.160 19 50861367 upstream gene variant A/C;G snv 0.800 0.938 16 2008 2019
dbSNP: rs6983561
rs6983561
3 0.925 0.080 8 127094635 intron variant A/C snv 0.17 0.780 1.000 10 2008 2017
dbSNP: rs1859962
rs1859962
4 0.882 0.160 17 71112612 intron variant G/T snv 0.56 0.770 0.923 13 2007 2018
dbSNP: rs339331
rs339331
4 0.882 0.080 6 116888889 intron variant T/C snv 0.28 0.760 0.900 10 2010 2019
dbSNP: rs10486567
rs10486567
9 0.851 0.120 7 27936944 intron variant G/A snv 0.28 0.750 0.857 7 2010 2018
dbSNP: rs17632542
rs17632542
5 0.925 0.080 19 50858501 missense variant T/C snv 5.5E-02 4.9E-02 0.750 0.714 7 2011 2015
dbSNP: rs12653946
rs12653946
5 0.882 0.080 5 1895715 intron variant C/T snv 0.43 0.740 1.000 8 2010 2019
dbSNP: rs7501939
rs7501939
12 0.776 0.280 17 37741165 intron variant C/T snv 0.41 0.740 1.000 8 2008 2018
dbSNP: rs4242382
rs4242382
9 0.763 0.240 8 127505328 intergenic variant A/G;T snv 0.740 1.000 6 2008 2015
dbSNP: rs11649743
rs11649743
2 0.925 0.080 17 37714971 intron variant A/G snv 0.85 0.730 1.000 5 2011 2019
dbSNP: rs1800057
rs1800057
ATM
11 0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 0.730 0.750 4 2004 2018
dbSNP: rs2066827
rs2066827
21 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 0.730 0.750 4 2004 2019
dbSNP: rs103294
rs103294
7 0.827 0.200 19 54293995 downstream gene variant T/C snv 0.82 0.730 1.000 3 2012 2014
dbSNP: rs5945572
rs5945572
3 0.882 0.160 X 51486831 downstream gene variant A/G snv 0.730 1.000 3 2008 2010
dbSNP: rs7679673
rs7679673
28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.720 0.857 7 2009 2018
dbSNP: rs1465618
rs1465618
3 0.882 0.160 2 43326810 intron variant T/C snv 0.80 0.720 0.800 5 2009 2019
dbSNP: rs10896449
rs10896449
7 0.827 0.200 11 69227200 intergenic variant A/G snv 0.53 0.720 1.000 4 2008 2015
dbSNP: rs11568818
rs11568818
15 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 0.720 0.750 4 2013 2018
dbSNP: rs1456315
rs1456315
9 0.790 0.200 8 127091692 non coding transcript exon variant T/A;C snv 0.720 1.000 4 2010 2014