Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514670
rs397514670
SYNGAP1
T 0.800 CausalMutation CLINVAR Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. 26989088

2016
dbSNP: rs397514670
rs397514670
SYNGAP1
0.800 GeneticVariation UNIPROT Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. 23161826

2013
dbSNP: rs397514670
rs397514670
SYNGAP1
0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs397514670
rs397514670
SYNGAP1
T 0.800 CausalMutation CLINVAR Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. 23161826

2013
dbSNP: rs397514670
rs397514670
SYNGAP1
0.800 GeneticVariation UNIPROT De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. 21237447

2011
dbSNP: rs397514670
rs397514670
SYNGAP1
0.800 GeneticVariation UNIPROT A de novo paradigm for mental retardation. 21076407

2010
dbSNP: rs397514670
rs397514670
SYNGAP1
0.800 GeneticVariation UNIPROT Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. 19196676

2009
dbSNP: rs869312674
rs869312674
SYNGAP1
A 0.700 CausalMutation CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332

2017
dbSNP: rs397514741
rs397514741
SYNGAP1
T 0.700 CausalMutation CLINVAR Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. 26989088

2016
dbSNP: rs869312955
rs869312955
SYNGAP1
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
SYNGAP1
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
dbSNP: rs1131691979
rs1131691979
SYNGAP1
C 0.700 CausalMutation CLINVAR Recurrent de novo mutations implicate novel genes underlying simplex autism risk. 25418537

2014
dbSNP: rs869312674
rs869312674
SYNGAP1
A 0.700 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014
dbSNP: rs1554121189
rs1554121189
SYNGAP1 ; MIR5004
CCTGGATGA 0.700 CausalMutation CLINVAR Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. 23161826

2013
dbSNP: rs1554121189
rs1554121189
SYNGAP1 ; MIR5004
CCTGGATGA 0.700 CausalMutation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs397514741
rs397514741
SYNGAP1
T 0.700 CausalMutation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs797045012
rs797045012
SYNGAP1
G 0.700 CausalMutation CLINVAR Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. 23161826

2013
dbSNP: rs397515320
rs397515320
SYNGAP1
C 0.700 CausalMutation CLINVAR Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. 19196676

2009
dbSNP: rs1057518352
rs1057518352
SYNGAP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519400
rs1057519400
SYNGAP1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057519405
rs1057519405
SYNGAP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519546
rs1057519546
SYNGAP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519546
rs1057519546
SYNGAP1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503378
rs1060503378
SYNGAP1 ; MIR5004
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060503383
rs1060503383
SYNGAP1
T 0.700 CausalMutation CLINVAR