rs4147929

This variant is located in the ABCA7 gene.

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GWAS Catalog Trait Associations (6)

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

platelet volume

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.02
p 1.0e-24
N 394,642
Large GWAS
European

Alzheimer disease

Lambert JC et al. “Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.” Nature Genetics 45(12):1452-8 (2013)
Allele A
OR 1.15
p 1.0e-15
N 54,162
Meta-analysisLarge GWAS
European
Jansen IE et al. “Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.” Nature Genetics 51(3):404-413 (2019)
Allele A
OR 5.76
p 9.0e-9
N 79,145
Meta-analysisLarge GWAS
European

hemoglobin measurement

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR 0.02
p 2.0e-10
N 149,861
Large GWAS
East Asian
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.02
p 2.0e-8
N 152,447
Large GWAS
East Asian
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Research that mentions this SNP (1)

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F‐box/ LRR ‐repeat protein 7 is genetically associated with Alzheimer's disease
AssociationN=5,300Giuseppe Tosto et al.(2015)· Annals of Clinical and Translational Neurology

A genome-wide association study of 4,514 unrelated Caribbean Hispanics identified a novel locus rs75002042 in FBXL7 associated with late-onset Alzheimer's disease (OR=0.61, p=6.19E-09), confirmed in an expanded cohort of 5,300 subjects (OR=0.63, p=4.7E-08). The study also identified rs7431992 in CACNA2D3 (OR=1.59, p=1.99E-08) and replicated six previously known LOAD loci.

Traits studied:Alzheimer diseaseLate-onset Alzheimer's disease (LOAD)
PubMedDOIMetascience Observatory

About ABCA7

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]

View all ABCA7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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