rs9282834

This is a variant in the RET gene that changes a aspartate to an asparagine.

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GWAS Catalog Trait Associations (1)

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

Hirschsprung disease

Tang CS et al. “Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.” Human Molecular Genetics 25(23):5265-5275 (2016)
Allele A
OR 20.30
p 4.0e-14
N 1,698
Meta-analysis
multi-ancestry
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ClinVar annotation

Likely Benign★★★☆
12 submitters4 publications

Familial medullary thyroid carcinoma (MTC); Hereditary cancer-predisposing syndrome; Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2A; Multiple endocrine neoplasia type 2B; Multiple endocrine neoplasia, type 2 (MEN2); Pheochromocytoma; not specified

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About RET

This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related proteins to the encoded receptor stimulates receptor dimerization and activation of downstream signaling pathways that play a role in cell differentiation, growth, migration and survival. The encoded receptor is important in development of the nervous system, and the development of organs and tissues derived from the neural crest. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Mutations in this gene are associated with Hirschsprung disease and central hypoventilation syndrome and have been identified in patients with renal agenesis. [provided by RefSeq, Sep 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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