Gene: EP300 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937578
rs28937578
EP300 ; EP300-AS1
0.800 GeneticVariation UNIPROT

dbSNP: rs28937578
rs28937578
EP300 ; EP300-AS1
A 0.800 CausalMutation CLINVAR

dbSNP: rs1569118537
rs1569118537
EP300
T 0.700 CausalMutation CLINVAR From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks. 26486927

2016
dbSNP: rs137853038
rs137853038
EP300
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555909666
rs1555909666
EP300
T 0.700 CausalMutation CLINVAR