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 		0.800 GeneticVariation UNIPROT
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: rs1554770064
rs1554770064
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		GAGC 0.700 CausalMutation CLINVAR
dbSNP: rs1554770185
rs1554770185
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		CCGGCAT 0.700 CausalMutation CLINVAR
dbSNP: rs1554770262
rs1554770262
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1554770589
rs1554770589
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554770667
rs1554770667
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C4693325
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1564363665
rs1564363665
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1564365418
rs1564365418
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C2243051
Disease:
Large head (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1564365418
rs1564365418
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0009952
Disease:
Febrile Convulsions 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1564365418
rs1564365418
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0856975
Disease:
Autistic behavior 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1564365418
rs1564365418
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0454641
Disease:
Expressive language delay 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1564365418
rs1564365418
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0557874
Disease:
Global developmental delay 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs200777850
rs200777850
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C4693964
Disease:
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs781053477
rs781053477
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs797044925
rs797044925
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
dbSNP: rs869312865
rs869312865
Entrez Id: 2902;105376328
Gene Symbol: GRIN1;LOC105376328
GRIN1;LOC105376328
CUI: C4693964
Disease:
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR
dbSNP: rs869312865
rs869312865
Entrez Id: 2902;105376328
Gene Symbol: GRIN1;LOC105376328
GRIN1;LOC105376328
CUI: C3280282
Disease:
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs878853143
rs878853143
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0025362
Disease:
Mental Retardation 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1554770044
rs1554770044
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Molecular cloning and characterization of the rat NMDA receptor. 1834949 1991