rs115882880
This is a regulatory region variant variant in the GRIN3B gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Alzheimer disease, APOE carrier status
Alzheimer disease, dementia, family history of Alzheimer’s disease
▶Research that mentions this SNP (1)
▶Variants in the ATP-Binding Cassette Transporter (ABCA7), Apolipoprotein E ϵ4, and the Risk of Late-Onset Alzheimer Disease in African AmericansAssociationN=5,896Reitz C. et al.(2013)· JAMA
This GWAS meta-analysis in 5,896 African Americans (1,968 cases, 3,928 controls) identified rs115550680 in ABCA7 as significantly associated with late-onset Alzheimer disease (AD) (OR=1.79, 95% CI 1.47-2.12, P=2.2×10⁻⁹), with effect size comparable to APOE ε4 (rs429358, OR=2.31, P=5.5×10⁻⁴⁷). Additional AD-associated loci identified in African Americans included variants in CR1, BIN1, EPHA1, and CD33, some differing from European ancestry findings.
About GRIN3B
The protein encoded by this gene is a subunit of an N-methyl-D-aspartate (NMDA) receptor. The encoded protein is found primarily in motor neurons, where it forms a heterotetramer with GRIN1 to create an excitatory glycine receptor. Variations in this gene have been proposed to be linked to schizophrenia. [provided by RefSeq, Nov 2015]
View all GRIN3B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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