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: rs786203054
rs786203054
ATM
2 1.000 0.200 11 108271074 missense variant T/A;G snv 0.800 1.000 27 1995 2017