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: rs2243289
rs2243289
3 0.882 0.240 5 132682440 intron variant A/G snv 0.26 0.23 0.010 1.000 1 2017 2017
dbSNP: rs2291599
rs2291599
2 0.925 0.120 11 11968352 intron variant T/C snv 0.83 0.85 0.010 1.000 1 2009 2009
dbSNP: rs2499707
rs2499707
2 0.925 0.120 6 34085889 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs2504106
rs2504106
2 0.925 0.120 6 39854343 intron variant A/G snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs2606736
rs2606736
4 1.000 0.120 3 11358775 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2761016
rs2761016
2 0.925 0.120 9 113391072 intron variant T/C snv 0.59 0.010 1.000 1 2011 2011
dbSNP: rs2854744
rs2854744
20 0.695 0.520 7 45921476 intron variant G/T snv 0.48 0.010 1.000 1 2011 2011
dbSNP: rs2981582
rs2981582
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs34048824
rs34048824
1 1.000 0.120 2 25312674 intron variant T/C snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs3774262
rs3774262
5 0.851 0.200 3 186854025 intron variant G/A snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs3783546
rs3783546
5 0.882 0.160 2 112777253 intron variant G/C snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs3783550
rs3783550
5 0.827 0.200 2 112775308 intron variant G/T snv 0.64 0.70 0.010 1.000 1 2017 2017
dbSNP: rs390802
rs390802
5 0.827 0.160 3 52397655 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs3923594
rs3923594
2 1.000 0.120 11 119317205 intron variant C/A;T snv 7.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs4381241
rs4381241
2 0.925 0.120 1 50441766 intron variant T/C snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs4765623
rs4765623
2 0.925 0.120 12 124836304 intron variant C/T snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs4778889
rs4778889
24 0.683 0.480 15 81296654 intron variant T/C snv 0.24 0.010 < 0.001 1 2019 2019
dbSNP: rs4787951
rs4787951
2 0.925 0.120 16 27332642 intron variant T/C snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs4903064
rs4903064
2 0.925 0.120 14 72812712 intron variant T/C snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs4988235
rs4988235
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 < 0.001 1 2010 2010
dbSNP: rs611646
rs611646
ATM
3 0.882 0.120 11 108306370 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs6442260
rs6442260
2 0.925 0.160 3 11549277 intron variant G/A snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs6641352
rs6641352
2 0.925 0.120 X 149711150 intron variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs6721961
rs6721961
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2019 2019
dbSNP: rs67311347
rs67311347
2 0.925 0.120 3 40491752 intron variant G/A snv 0.36 0.010 1.000 1 2017 2017