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 0.010 1.000 1 2009 2009
dbSNP: rs786203926
rs786203926
ATM
4 0.882 0.120 11 108227678 synonymous variant T/C snv 0.010 1.000 1 2009 2009