rs55811935

This variant is located in the SLC4A7 gene.

GWAS Catalog Trait Associations (1)

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

pulse pressure measurement

Plotnikov D et al. High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study. Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele T
OR 0.23
p 1.0e-18
N 526,001
Large GWAS
European

About SLC4A7

This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]

View all SLC4A7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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