Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500046
rs1060500046
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1554770624
rs1554770624
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1554770667
rs1554770667
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs797045047
rs797045047
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		A 0.800 CausalMutation CLINVAR
dbSNP: rs797045047
rs797045047
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		C 0.800 CausalMutation CLINVAR
dbSNP: rs869312865
rs869312865
Entrez Id: 2902;105376328
Gene Symbol: GRIN1;LOC105376328
GRIN1;LOC105376328
CUI: C4693325
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE 		C 0.800 GeneticVariation CLINVAR
dbSNP: rs1554770659
rs1554770659
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0376532
Disease:
Epilepsy, Rolandic 		C 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307 2017
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017
dbSNP: rs1554770046
rs1554770046
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017
dbSNP: rs1554770046
rs1554770046
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307 2017
dbSNP: rs1554770054
rs1554770054
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307 2017
dbSNP: rs1554770054
rs1554770054
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology. 28095420 2017
dbSNP: rs1554770054
rs1554770054
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function. 28228639 2017
dbSNP: rs1554770667
rs1554770667
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307 2017
dbSNP: rs1554770667
rs1554770667
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307 2017
dbSNP: rs1554770667
rs1554770667
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017
dbSNP: rs1554770667
rs1554770667
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017
dbSNP: rs387906635
rs387906635
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function. 28228639 2017
dbSNP: rs387906635
rs387906635
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology. 28095420 2017
dbSNP: rs387906635
rs387906635
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307 2017
dbSNP: rs797045047
rs797045047
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307 2017
dbSNP: rs797045047
rs797045047
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307 2017
dbSNP: rs797045047
rs797045047
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 GeneticVariation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017
dbSNP: rs797045047
rs797045047
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017