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: rs6495309
rs6495309
6 0.807 0.080 15 78622903 upstream gene variant C/A;T snv 0.040 1.000 4 2009 2014
dbSNP: rs6983267
rs6983267
55 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.040 1.000 4 2008 2017
dbSNP: rs762551
rs762551
23 0.701 0.400 15 74749576 intron variant C/A snv 0.67 0.040 1.000 4 2012 2014
dbSNP: rs12914385
rs12914385
8 0.790 0.160 15 78606381 intron variant C/A;T snv 0.030 1.000 3 2010 2012
dbSNP: rs1760944
rs1760944
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.030 1.000 3 2009 2014
dbSNP: rs1800624
rs1800624
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.030 1.000 3 2013 2017
dbSNP: rs1800796
rs1800796
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.030 0.667 3 2014 2018
dbSNP: rs2031920
rs2031920
20 0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02 0.030 1.000 3 2012 2016
dbSNP: rs2298881
rs2298881
25 0.653 0.400 19 45423658 intron variant C/A;T snv 0.030 1.000 3 2011 2014
dbSNP: rs2352028
rs2352028
6 0.851 0.080 13 91792975 intron variant C/G;T snv 0.030 1.000 3 2010 2015
dbSNP: rs2853669
rs2853669
35 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 0.030 1.000 3 2013 2018
dbSNP: rs2868371
rs2868371
5 0.827 0.120 7 76301442 upstream gene variant C/G snv 0.22 0.030 0.667 3 2015 2019
dbSNP: rs3743073
rs3743073
11 0.807 0.120 15 78617197 intron variant G/T snv 0.61 0.030 0.667 3 2010 2013
dbSNP: rs4645981
rs4645981
11 0.790 0.160 1 15524988 intron variant G/A;C snv 0.030 1.000 3 2010 2013
dbSNP: rs664143
rs664143
8 0.807 0.160 11 108354934 3 prime UTR variant A/G;T snv 0.030 1.000 3 2012 2017
dbSNP: rs664677
rs664677
ATM
8 0.807 0.160 11 108272455 intron variant C/A;T snv 0.65 0.030 1.000 3 2012 2017
dbSNP: rs833061
rs833061
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.030 1.000 3 2014 2017
dbSNP: rs931794
rs931794
3 0.851 0.080 15 78533838 3 prime UTR variant G/A;C snv 0.030 1.000 3 2009 2015
dbSNP: rs1258159645
rs1258159645
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.020 0.500 2 2004 2006
dbSNP: rs12826786
rs12826786
26 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 0.020 0.500 2 2018 2018
dbSNP: rs12976445
rs12976445
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.020 1.000 2 2018 2019
dbSNP: rs13009079
rs13009079
3 0.882 0.080 2 174396420 intron variant T/C snv 0.26 0.020 1.000 2 2014 2016
dbSNP: rs1360485
rs1360485
15 0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58 0.020 1.000 2 2017 2018
dbSNP: rs1412125
rs1412125
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.020 1.000 2 2014 2018
dbSNP: rs156641
rs156641
3 0.882 0.080 19 48128151 intron variant C/T snv 0.29 0.020 0.500 2 2008 2015