Gene: BRPF1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762904815
rs762904815
BRPF1
GC 0.700 CausalMutation CLINVAR Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. 27939639

2017
dbSNP: rs762904815
rs762904815
BRPF1
GC 0.700 CausalMutation CLINVAR Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. 27939640

2017