rs322937

This variant is located in the TRPV3 gene.

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GWAS Catalog Trait Associations (1)

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

level of fatty acid-binding protein 9 in blood

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 0.03

p 3.0e-13

N 47,745

Large GWAS

European

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ClinVar annotation

Benign★★★☆

5 submitters2 publications

Isolated focal non-epidermolytic palmoplantar keratoderma; not provided; Olmsted syndrome 1

View on ClinVar →

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Research that mentions this SNP (1)

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SNP variants within the vanilloidTRPV1andTRPV3receptor genes are associated with migraine in the Spanish population

AssociationN=2,077Oriel Carreño et al.(2012)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Case-control genetic association study with replication examining 149 SNPs in 14 TRP channel genes across 1,040 migraine cases and 1,037 controls in a Spanish population. TRPV3 rs7217270 was associated with migraine with aura (MA) and TRPV1 rs222741 with overall migraine in replication. Risk haplotypes in TRPC1, TRPC4, TRPV1, TRPV3, TRPV4, TRPM6, and TRPM8 were identified in the discovery phase (ORs 1.37-2.42) but not replicated.

Traits studied:MigraineMigraine with auraMigraine without aura

PubMed DOI Metascience Observatory

About TRPV3

This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]