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: rs869312674
rs869312674
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C2675473
Disease:
Mental Retardation, Autosomal Dominant 5 		A 0.700 CausalMutation CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332 2017
dbSNP: rs869312674
rs869312674
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C2675473
Disease:
Mental Retardation, Autosomal Dominant 5 		A 0.700 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861 2014