rs11716531

This is a downstream gene 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.

diastolic blood pressure

Wain LV et al. “Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.” Hypertension (dallas, Tex. : 1979) 70(3):e4-e19 (2017)

Allele A

OR 0.35

p 2.0e-11

N 150,134

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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