Disease: Mental Retardation, Autosomal Dominant 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312955
rs869312955
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C2675473
Disease:
Mental Retardation, Autosomal Dominant 5 		T 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
dbSNP: rs869312955
rs869312955
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C2675473
Disease:
Mental Retardation, Autosomal Dominant 5 		T 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015