Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796052571
rs796052571
T 0.700 GeneticVariation CLINVAR

dbSNP: rs797044849
rs797044849
G 0.700 GeneticVariation CLINVAR

dbSNP: rs748128078
rs748128078
0.010 GeneticVariation BEFREE We analyzed several variants located in the GluN2B C terminus and found that three variants in patients with autism (S1415L) or schizophrenia (L1424F and S1452F) (S1413L, L1422F, and S1450F in rodents, respectively) displayed impaired binding to membrane-associated guanylate kinase (MAGUK) proteins. 28283559

2017

dbSNP: rs756790727
rs756790727
0.010 GeneticVariation BEFREE We analyzed several variants located in the GluN2B C terminus and found that three variants in patients with autism (S1415L) or schizophrenia (L1424F and S1452F) (S1413L, L1422F, and S1450F in rodents, respectively) displayed impaired binding to membrane-associated guanylate kinase (MAGUK) proteins. 28283559

2017

dbSNP: rs879254129
rs879254129
0.010 GeneticVariation BEFREE We analyzed several variants located in the GluN2B C terminus and found that three variants in patients with autism (S1415L) or schizophrenia (L1424F and S1452F) (S1413L, L1422F, and S1450F in rodents, respectively) displayed impaired binding to membrane-associated guanylate kinase (MAGUK) proteins. 28283559

2017