rs3796622

This variant is located in the SLC26A1 gene.

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GWAS Catalog Trait Associations (1)

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

alpha-L-iduronidase measurement

Kalnapenkis A et al. “Genetic determinants of plasma protein levels in the Estonian population.” Scientific Reports 14(1):7694 (2024)

Allele C

OR 0.60

p 3.0e-24

N 497

Small GWAS

European

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ClinVar annotation

Benign★★★☆

5 submitters2 publications

not provided; Nephrolithiasis, calcium oxalate; not specified

View on ClinVar →

About SLC26A1

This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [provided by RefSeq, Jul 2008]

View all SLC26A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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