rs5417

This is a regulatory region variant variant in the SLC2A4 gene.

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GWAS Catalog Trait Associations (3)

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

diastolic blood pressure

Warren HR et al. “Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.” Nature Genetics 49(3):403-415 (2017)
Allele A
OR 0.21
p 1.0e-13
N 140,886
Large GWAS
European

mean arterial pressure

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.01
p 2.0e-12
N 506,365
Large GWAS
multi-ancestry

Diuretic use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele C
OR 0.05
p 8.0e-11
N 229,086
Major Consortium StudyLarge GWAS
European

About SLC2A4

This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). [provided by RefSeq, Jul 2008]

View all SLC2A4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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