Gene: EP300 ×
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: rs1555907749
rs1555907749
EP300
1 22 41131612 frameshift variant -/T delins 0.700 1.000 19 1963 2016