rs869312674, SYNGAP1

N. diseases: 2
Disease: Mental Retardation, Autosomal Dominant 5 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mental Retardation, Autosomal Dominant 5
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
0.700 CausalMutation CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332 2017
Mental Retardation, Autosomal Dominant 5
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
0.700 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861 2014