rs146115506

This variant is located in the RFX6 gene.

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GWAS Catalog Trait Associations (1)

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

appetite-regulating hormone 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 0.36
p 5.0e-16
N 47,745
Large GWAS
European
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ClinVar annotation

Conflicting Classifications
10 submitters2 publications

not specified; Monogenic diabetes; not provided; RFX6-related disorder; Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome

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About RFX6

The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes. Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[provided by RefSeq, Sep 2010]

View all RFX6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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