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: rs1057519889
rs1057519889
EP300
6 0.807 0.200 22 41169525 missense variant G/A;T snv 0.700 1.000 1 2016 2016