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: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.100 0.968 31 2006 2019
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.100 0.968 31 2006 2019
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.100 0.968 31 2006 2019
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.100 1.000 18 2010 2015
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.875 16 2000 2018
dbSNP: rs8034191
rs8034191
24 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.100 0.813 16 2008 2017
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.875 16 2000 2018
dbSNP: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.100 1.000 15 2009 2018
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.090 1.000 9 2005 2016
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.667 9 2001 2018
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.070 1.000 7 2011 2019
dbSNP: rs1970764
rs1970764
4 0.851 0.120 19 45387615 intron variant T/C snv 0.27 0.070 1.000 7 2012 2019
dbSNP: rs189037
rs189037
ATM ; NPAT
22 0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 0.060 1.000 6 2012 2019
dbSNP: rs3117582
rs3117582
14 0.716 0.440 6 31652743 intron variant T/G snv 7.1E-02 0.060 1.000 6 2009 2017
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.050 1.000 5 2006 2018
dbSNP: rs31489
rs31489
10 0.763 0.320 5 1342599 intron variant C/A snv 0.41 0.050 1.000 5 2010 2014
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.050 1.000 5 2006 2018
dbSNP: rs4488809
rs4488809
5 0.827 0.080 3 189638472 intron variant T/C snv 0.45 0.050 1.000 5 2011 2015
dbSNP: rs9282861
rs9282861
31 0.658 0.440 16 28606193 missense variant C/T snv 0.050 0.800 5 2004 2017
dbSNP: rs10937405
rs10937405
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.040 1.000 4 2012 2015
dbSNP: rs1800734
rs1800734
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.040 1.000 4 2011 2017
dbSNP: rs2853677
rs2853677
19 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.040 1.000 4 2016 2019
dbSNP: rs4324798
rs4324798
8 0.790 0.240 6 28808340 intergenic variant G/A snv 7.2E-02 0.040 1.000 4 2010 2017
dbSNP: rs4646903
rs4646903
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.040 0.750 4 2010 2016
dbSNP: rs578776
rs578776
13 0.742 0.240 15 78596058 3 prime UTR variant G/A snv 0.39 0.040 1.000 4 2010 2020