EP300, E1A binding protein p300, 2033

N. diseases: 345; N. variants: 48
Disease: Microcephaly (physical finding) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519012
rs1057519012
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C4551563
Disease:
Microcephaly (physical finding) 		TG 0.700 GeneticVariation CLINVAR