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: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.810 1.000 3 2011 2017
dbSNP: rs587779826
rs587779826
ATM
5 0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1800054
rs1800054
ATM
7 0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03 0.010 1.000 1 2008 2008