Gene: EP300 ×
Source: INFERRED ×
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: rs1555911098
rs1555911098
EP300
1 22 41168719 splice acceptor variant A/G snv 0.700 1.000 19 1963 2016