Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11866328
rs11866328
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C0019163
Disease:
Hepatitis B 		0.810 GeneticVariation BEFREE Of the 8 SNPs, variant rs11866328 (G/T), located in the glutamate receptor ionotropic N-methyl D-aspartate 2A (GRIN2A) gene, was replicated and had significant associations with disease progression of HBV infection in the DNA pooling stage both in the Hubei (OR 1.65; 95% CI 1.34,2.02; p=1.96 × 10(-6); additive model), and in the Shandong (OR 1.73; 95% CI 1.14,2.65; p=1.00×10(-2); additive model) population. 22004137 2011
dbSNP: rs11866328
rs11866328
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C0019163
Disease:
Hepatitis B 		G 0.810 GeneticVariation GWASCAT Of the 8 SNPs, variant rs11866328 (G/T), located in the glutamate receptor ionotropic N-methyl D-aspartate 2A (GRIN2A) gene, was replicated and had significant associations with disease progression of HBV infection in the DNA pooling stage both in the Hubei (OR 1.65; 95% CI 1.34,2.02; p=1.96 × 10(-6); additive model), and in the Shandong (OR 1.73; 95% CI 1.14,2.65; p=1.00×10(-2); additive model) population. 22004137 2011
dbSNP: rs11866328
rs11866328
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C0019163
Disease:
Hepatitis B 		G 0.810 GeneticVariation GWASDB Of the 8 SNPs, variant rs11866328 (G/T), located in the glutamate receptor ionotropic N-methyl D-aspartate 2A (GRIN2A) gene, was replicated and had significant associations with disease progression of HBV infection in the DNA pooling stage both in the Hubei (OR 1.65; 95% CI 1.34,2.02; p=1.96 × 10(-6); additive model), and in the Shandong (OR 1.73; 95% CI 1.14,2.65; p=1.00×10(-2); additive model) population. 22004137 2011
dbSNP: rs397514557
rs397514557
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. 28182669 2017
dbSNP: rs397514557
rs397514557
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		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: rs397514557
rs397514557
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		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: rs397514557
rs397514557
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy. 28126851 2017
dbSNP: rs397518447
rs397518447
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. 28182669 2017
dbSNP: rs397518447
rs397518447
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		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: rs397518447
rs397518447
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		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: rs397518447
rs397518447
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy. 28126851 2017
dbSNP: rs397518450
rs397518450
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy. 28126851 2017
dbSNP: rs397518450
rs397518450
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. 28182669 2017
dbSNP: rs397518450
rs397518450
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		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: rs397518450
rs397518450
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		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: rs397518470
rs397518470
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		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: rs397518470
rs397518470
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy. 28126851 2017
dbSNP: rs397518470
rs397518470
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. 28182669 2017
dbSNP: rs397518470
rs397518470
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		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: rs397518471
rs397518471
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		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: rs397518471
rs397518471
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		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: rs397518471
rs397518471
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. 28182669 2017
dbSNP: rs397518471
rs397518471
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy. 28126851 2017
dbSNP: rs762659685
rs762659685
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy. 28126851 2017
dbSNP: rs762659685
rs762659685
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017