Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs672601377
rs672601377
GRIN2B ; LOC105369668
0.800 GeneticVariation UNIPROT GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. 24272827

2014
dbSNP: rs672601377
rs672601377
GRIN2B ; LOC105369668
A 0.800 CausalMutation CLINVAR