rs2281575

This variant is located in the SLC4A11 gene.

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GWAS Catalog Trait Associations (2)

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

sialoadhesin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.06

p 1.0e-33

N 47,745

Large GWAS

European

level of soluble scavenger receptor cysteine-rich domain-containing protein SSC5D 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 A

OR 0.03

p 2.0e-12

N 47,745

Large GWAS

European

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ClinVar annotation

Benign★★★☆

4 submitters2 publications

not specified; not provided; Corneal dystrophy-perceptive deafness syndrome; Congenital hereditary endothelial dystrophy of cornea

View on ClinVar →

About SLC4A11

This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]