Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554120498
rs1554120498
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C2675473
Disease:
Mental Retardation, Autosomal Dominant 5
GC 0.700 CausalMutation CLINVAR