Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10747050
rs10747050
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE We tested for a potential association between schizophrenia and four single nucleotide polymorphisms (rs4880213, rs11146020, rs6293, and rs10747050) and one microsatellite marker at GRIN1 in a German sample of 354 patients and 323 controls. 17728671 2007
dbSNP: rs1126442
rs1126442
Entrez Id: 2902;105376328
Gene Symbol: GRIN1;LOC105376328
GRIN1;LOC105376328
CUI: C0349204
Disease:
Nonorganic psychosis
0.010 GeneticVariation BEFREE The present findings indicate that the rs1126442 of GRIN1 contributes to the genetic vulnerability to psychosis in METH-dependent subjects in the Thai population. 23880023 2013
dbSNP: rs1126442
rs1126442
Entrez Id: 2902;105376328
Gene Symbol: GRIN1;LOC105376328
GRIN1;LOC105376328
CUI: C0033975
Disease:
Psychotic Disorders
0.010 GeneticVariation BEFREE The present findings indicate that the rs1126442 of GRIN1 contributes to the genetic vulnerability to psychosis in METH-dependent subjects in the Thai population. 23880023 2013
dbSNP: rs2301364
rs2301364
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE Genotyping assays were used to screen for polymorphisms in the GRIN1 (rs2301364 T>C, rs28489906 T>C, and rs4880213 T>C) and GRIN2B (C366G, C2664T, and rs1805476 T>G) genes, and logistic regression analysis was then used to assess the association between these single nucleotide polymorphisms (SNPs) and PD susceptibility. 20438806 2010
dbSNP: rs28489906
rs28489906
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE Genotyping assays were used to screen for polymorphisms in the GRIN1 (rs2301364 T>C, rs28489906 T>C, and rs4880213 T>C) and GRIN2B (C366G, C2664T, and rs1805476 T>G) genes, and logistic regression analysis was then used to assess the association between these single nucleotide polymorphisms (SNPs) and PD susceptibility. 20438806 2010
dbSNP: rs869312865
rs869312865
Entrez Id: 2902;105376328
Gene Symbol: GRIN1;LOC105376328
GRIN1;LOC105376328
CUI: C0014544
Disease:
Epilepsy
0.010 GeneticVariation BEFREE The p.(Asp227His) variant is located in the same aminoterminal protein domain as the recently published p.(Arg217Trp), which was found at the homozygous state in two patients with a similar phenotype of severe intellectual disability and autistic features but without epilepsy. 28051072 2017
dbSNP: rs869312865
rs869312865
Entrez Id: 2902;105376328
Gene Symbol: GRIN1;LOC105376328
GRIN1;LOC105376328
CUI: C0036857
Disease:
Severe intellectual disability
0.010 GeneticVariation BEFREE The p.(Asp227His) variant is located in the same aminoterminal protein domain as the recently published p.(Arg217Trp), which was found at the homozygous state in two patients with a similar phenotype of severe intellectual disability and autistic features but without epilepsy. 28051072 2017
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 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
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: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704 2016
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR Model of infantile spasms induced by N-methyl-D-aspartic acid in prenatally impaired brain. 17315208 2007
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR The chromosome 9q subtelomere deletion syndrome. 17910072 2007
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR The NCBI BioSystems database. 19854944 2010
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 Evidence for a tetrameric structure of recombinant NMDA receptors. 9526012 1998
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR NMDA receptors, glial cells, and clinical medicine. 16600850 2006
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR Functional insights from glutamate receptor ion channel structures. 22974439 2013
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR Knocking-down the NMDAR1 subunit in a limited amount of neurons in the rat hippocampus impairs learning. 16635252 2006
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR The NMDA receptor as a target for cognitive enhancement. 22796429 2013