Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555103971
rs1555103971
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology. 28095420 2017
dbSNP: rs387906636
rs387906636
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology. 28095420 2017
dbSNP: rs397514555
rs397514555
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology. 28095420 2017
dbSNP: rs397514556
rs397514556
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology. 28095420 2017
dbSNP: rs527236034
rs527236034
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology. 28095420 2017
dbSNP: rs672601376
rs672601376
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C4015316
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs672601377
rs672601377
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C4015316
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs1555103971
rs1555103971
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. 27839871 2016
dbSNP: rs387906636
rs387906636
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. 27839871 2016
dbSNP: rs397514555
rs397514555
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. 27839871 2016
dbSNP: rs397514556
rs397514556
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. 27839871 2016
dbSNP: rs527236034
rs527236034
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. 27839871 2016
dbSNP: rs672601376
rs672601376
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C4015316
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.800 GeneticVariation UNIPROT Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. 27839871 2016
dbSNP: rs672601377
rs672601377
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C4015316
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.800 GeneticVariation UNIPROT Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. 27839871 2016
dbSNP: rs1555103971
rs1555103971
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. 24863970 2014
dbSNP: rs1555103971
rs1555103971
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs387906636
rs387906636
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. 24863970 2014
dbSNP: rs387906636
rs387906636
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs397514555
rs397514555
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs397514555
rs397514555
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. 24863970 2014
dbSNP: rs397514556
rs397514556
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. 24863970 2014
dbSNP: rs397514556
rs397514556
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs527236034
rs527236034
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs527236034
rs527236034
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C3151411
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.800 GeneticVariation UNIPROT Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. 24863970 2014
dbSNP: rs672601376
rs672601376
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C4015316
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.800 GeneticVariation UNIPROT GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. 24272827 2014