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: rs1567856331
rs1567856331
Entrez Id: 1107
Gene Symbol: CHD3
CHD3
CUI: C4748701
Disease:
SNIJDERS BLOK-CAMPEAU SYNDROME 		A 0.700 CausalMutation CLINVAR CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. 30397230 2018