rs17125944

This is a intron variant variant in the FERMT2 gene.

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GWAS Catalog Trait Associations (3)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele C
OR 0.01
p 7.0e-27
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

amyloid-beta measurement

Kim JP et al. “Cross-ancestry genome-wide association study identifies implications of SORL1 in cerebral beta-amyloid deposition.” Nature Communications 16(1):3150 (2025)
Allele C
OR 0.11
p 5.0e-11
N 15,701
Large GWAS
multi-ancestry

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 1.14
p 8.0e-9
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 FERMT2

Enables several functions, including phosphatidylinositol-3,4,5-trisphosphate binding activity; protein serine/threonine kinase binding activity; and type I transforming growth factor beta receptor binding activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of cellular component biogenesis; and positive regulation of intracellular signal transduction. Acts upstream of or within cell adhesion and protein localization to cell junction. Located in several cellular components, including adherens junction; cytoplasmic side of plasma membrane; and focal adhesion. Biomarker of acute myeloid leukemia. [provided by Alliance of Genome Resources, Jul 2025]

View all FERMT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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