Disease: SNIJDERS BLOK-CAMPEAU SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1567861468
rs1567861468
Entrez Id: 1107
Gene Symbol: CHD3
CHD3
CUI: C4748701
Disease:
SNIJDERS BLOK-CAMPEAU SYNDROME 		T 0.700 CausalMutation CLINVAR A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. 29463886 2019
dbSNP: rs1567861468
rs1567861468
Entrez Id: 1107
Gene Symbol: CHD3
CHD3
CUI: C4748701
Disease:
SNIJDERS BLOK-CAMPEAU SYNDROME 		T 0.700 CausalMutation CLINVAR CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. 30397230 2018