rs60605842

This is a intron variant variant in the SLC4A7 gene.

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GWAS Catalog Trait Associations (1)

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

systolic blood pressure, alcohol consumption quality

Feitosa MF et al. “Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.” Plos One 13(6):e0198166 (2018)

Allele A

OR —

p 4.0e-8

N 72,871

Large GWAS

multi-ancestry

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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