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: rs1800057
rs1800057
ATM
11 0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 0.730 0.750 4 2004 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 2016 2016