rs616338

This is a protein-altering variant in the ABI3 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

Alzheimer disease

Bellenguez C et al. “New insights into the genetic etiology of Alzheimer's disease and related dementias.” Nature Genetics 54(4):412-436 (2022)
Allele T
OR 1.32
p 3.0e-14
N 487,511
Large GWAS
European
Dalmasso MC et al. “The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 20(2):1298-1308 (2024)
Allele T
OR 1.35
p 2.0e-13
N 488,904
Large GWAS
multi-ancestry

late-onset Alzheimers disease

Sims R et al. “Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.” Nature Genetics 49(9):1373-1384 (2017)
Allele T
OR 1.43
p 5.0e-10
N 34,174
Large GWAS
European

About ABI3

This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

View all ABI3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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