rs10838725

This is a intron variant variant in the CELF1 gene.

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GWAS Catalog Trait Associations (1)

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

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 C
OR 1.08
p 1.0e-8
N 54,162
Meta-analysisLarge GWAS
European
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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 CELF1

Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

View all CELF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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