Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875229
rs281875229
SMARCA4
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.800 GeneticVariation UNIPROT Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308

2012
dbSNP: rs281875229
rs281875229
SMARCA4
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		C 0.800 CausalMutation CLINVAR