Source: ALL
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: rs587782276
rs587782276
ATM
2 1.000 0.200 11 108287598 splice acceptor variant A/C;G snv 1.6E-05 0.700 1.000 4 2013 2017