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: rs11175834
rs11175834
2 0.923 0.071 12 65598856 intron variant C/T snp 0.14 0.700 1 2017 2017
dbSNP: rs12990503
rs12990503
2 0.923 0.071 2 217429494 intron variant C/G snp 0.65 0.700 1 2017 2017
dbSNP: rs1874564
rs1874564
2 0.923 0.071 4 76936952 intergenic variant G/A snp 0.57 0.700 1 2017 2017
dbSNP: rs34081947
rs34081947
1 1.000 14 36090325 intron variant C/T snp 0.45 0.700 1 2017 2017
dbSNP: rs4649295
rs4649295
2 0.923 0.071 1 233280792 intron variant T/C snp 0.60 0.700 1 2017 2017
dbSNP: rs4915076
rs4915076
3 0.878 0.071 1 107816883 intron variant T/C snp 9.4E-02 0.700 1 2017 2017
dbSNP: rs6996585
rs6996585
2 0.923 0.071 8 32543285 intron variant A/G snp 0.37 0.700 1 2017 2017
dbSNP: rs9858271
rs9858271
2 0.923 0.071 3 59559604 regulatory region variant G/A snp 0.78 0.700 1 2017 2017
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.070 1.000 7 2008 2015
dbSNP: rs1799782
rs1799782
84 0.523 0.607 19 43553422 stop gained G/A snp 9.5E-02 7.1E-02 0.030 1.000 3 2009 2016
dbSNP: rs25487
rs25487
119 0.485 0.679 19 43551574 missense variant T/C snp 0.68 0.72 0.030 1.000 3 2009 2016
dbSNP: rs965513
rs965513
10 0.784 0.107 9 97793827 intergenic variant A/G,T snp 0.72 0.020 1.000 2 2015 2016
dbSNP: rs10136427
rs10136427
1 1.000 14 75513546 intergenic variant C/T snp 0.22 0.010 1.000 1 2015 2015
dbSNP: rs11554290
rs11554290
36 0.618 0.464 1 114713908 missense variant T/A,C,G snp 0.010 1.000 1 2014 2014
dbSNP: rs1220597
rs1220597
1 1.000 13 24243875 intron variant C/T snp 0.52 0.010 1.000 1 2015 2015
dbSNP: rs13184587
rs13184587
1 1.000 5 78910960 intron variant G/A,T snp 0.23; 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs1447295
rs1447295
9 0.801 0.107 8 127472793 intron variant A/C,T snp 0.82; 3.2E-05 0.010 < 0.001 1 2011 2011
dbSNP: rs1800057
rs1800057
ATM
9 0.756 0.179 11 108272729 missense variant C/A,G snp 1.7E-02 1.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs189037
rs189037
ATM ; NPAT
12 0.734 0.143 11 108223106 5 prime UTR variant G/A snp 0.49 0.010 1.000 1 2012 2012
dbSNP: rs1991517
rs1991517
7 0.821 0.107 14 81144239 missense variant G/C snp 0.90 0.90 0.010 1.000 1 2013 2013
dbSNP: rs2048722
rs2048722
TPO
1 1.000 2 1492028 intron variant A/G snp 0.50 0.010 1.000 1 2013 2013
dbSNP: rs2070593
rs2070593
3 0.923 0.036 5 151028379 3 prime UTR variant G/A snp 0.21 0.010 1.000 1 2009 2009
dbSNP: rs2132572
rs2132572
1 1.000 7 45921946 intergenic variant T/C snp 0.79 0.010 1.000 1 2013 2013
dbSNP: rs2279744
rs2279744
30 0.647 0.393 12 68808800 intron variant T/G snp 0.31 0.010 1.000 1 2013 2013
dbSNP: rs25489
rs25489
48 0.587 0.571 19 43552260 stop lost C/G,T snp 8.5E-06; 7.1E-02 3.2E-05; 5.5E-02 0.010 1.000 1 2014 2014