rs2274330

This is a synonymous variant in the CA6 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

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

carbonic anhydrase 6 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)

Allele C

OR 0.44

p 6.0e-29

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

About CA6

The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008]

View all CA6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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