Disease: COFFIN-SIRIS SYNDROME 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875230
rs281875230
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C3553249
Disease:
COFFIN-SIRIS SYNDROME 4 		0.800 GeneticVariation UNIPROT Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308 2012
dbSNP: rs281875230
rs281875230
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C3553249
Disease:
COFFIN-SIRIS SYNDROME 4 		G 0.800 CausalMutation CLINVAR