Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs672601376
rs672601376
GRIN2B ; LOC105369668
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
GRIN2B ; LOC105369668
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: rs672601376
rs672601376
GRIN2B ; LOC105369668
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
GRIN2B ; LOC105369668
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
GRIN2B ; LOC105369668
0.800 GeneticVariation UNIPROT GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. 24272827

2014
dbSNP: rs672601377
rs672601377
GRIN2B ; LOC105369668
0.800 GeneticVariation UNIPROT GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. 24272827

2014
dbSNP: rs672601376
rs672601376
GRIN2B ; LOC105369668
C 0.800 CausalMutation CLINVAR

dbSNP: rs672601377
rs672601377
GRIN2B ; LOC105369668
A 0.800 CausalMutation CLINVAR

dbSNP: rs672601378
rs672601378
GRIN2B ; LOC105369668
0.700 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017
dbSNP: rs672601378
rs672601378
GRIN2B ; LOC105369668
0.700 GeneticVariation UNIPROT Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. 27839871

2016
dbSNP: rs879253931
rs879253931
GRIN2B
A 0.700 CausalMutation CLINVAR Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients. 27572814

2016
dbSNP: rs672601378
rs672601378
GRIN2B ; LOC105369668
0.700 GeneticVariation UNIPROT GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. 24272827

2014
dbSNP: rs1057519553
rs1057519553
GRIN2B
0.700 GeneticVariation UNIPROT

dbSNP: rs1060499659
rs1060499659
GRIN2B ; LOC105369668
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1135401799
rs1135401799
GRIN2B ; LOC105369668
A 0.700 CausalMutation CLINVAR

dbSNP: rs1565455778
rs1565455778
GRIN2B
C 0.700 CausalMutation CLINVAR

dbSNP: rs796052571
rs796052571
GRIN2B ; LOC105369668
T 0.700 GeneticVariation CLINVAR

dbSNP: rs869312669
rs869312669
GRIN2B
G 0.700 CausalMutation CLINVAR

dbSNP: rs869312868
rs869312868
GRIN2B
T 0.700 CausalMutation CLINVAR

dbSNP: rs876661151
rs876661151
GRIN2B ; LOC105369668
T 0.700 GeneticVariation CLINVAR