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: rs1210404526
rs1210404526
EP300 ; EP300-AS1
2 0.925 0.120 22 41177712 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2018 2018