EP300, E1A binding protein p300, 2033

N. diseases: 345; N. variants: 48
Disease: Short stature ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057521737
rs1057521737
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0349588
Disease:
Short stature 		C 0.700 CausalMutation CLINVAR