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: 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: 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: rs11212592
rs11212592
3 0.882 0.080 11 108348120 intron variant A/G snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2019 2019
dbSNP: rs624366
rs624366
ATM
6 0.827 0.120 11 108283370 intron variant G/C snv 0.52 0.010 1.000 1 2013 2013
dbSNP: rs652311
rs652311
3 0.882 0.080 11 108369342 intron variant G/A snv 0.54 0.010 1.000 1 2013 2013