Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499936
rs1060499936
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
CUI: C3553249
Disease:
COFFIN-SIRIS SYNDROME 4
A 0.700 CausalMutation CLINVAR