rs35795092

This is a synonymous variant in the AGER gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (4)

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

complement C4 measurement

Borbye-Lorenzen N et al. “The correlates of neonatal complement component 3 and 4 protein concentrations with a focus on psychiatric and autoimmune disorders.” Cell Genomics 3(12):100457 (2023)
Allele C
OR 0.31
p 5.0e-189
N 68,768
Large GWAS
European

pulmonary surfactant-associated protein d measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.08
p 9.0e-28
N 47,745
Large GWAS
European

About AGER

The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]

View all AGER variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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