Disease: Hydrocephalus ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122368
rs398122368
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C0020255
Disease:
Hydrocephalus 		0.010 GeneticVariation BEFREE The p.Arg37His PV in the DNA-binding domain of SMARCB1 causes a distinctive syndrome, likely through a gain-of-function or dominant-negative effect, which is characterized by severe ID and hydrocephalus resulting from choroid plexus hyperplasia. 29907796 2019