Disease: Autistic Disorder ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796052571
rs796052571
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C0004352
Disease:
Autistic Disorder 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs797044849
rs797044849
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0004352
Disease:
Autistic Disorder 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs748128078
rs748128078
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0004352
Disease:
Autistic Disorder 		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
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0004352
Disease:
Autistic Disorder 		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
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0004352
Disease:
Autistic Disorder 		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