rs3743171

This variant is located in the SLC24A1 gene.

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GWAS Catalog Trait Associations (2)

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

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)

Allele T

OR 0.01

p 1.0e-9

N 1,122,049

Large GWAS

European

ferritin measurement

Bell S et al. “A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.” Communications Biology 4(1):156 (2021)

Allele T

OR 0.02

p 3.0e-8

N 246,139

Meta-analysisLarge GWAS

European

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ClinVar annotation

Benign★★★☆

7 submitters2 publications

not specified; Congenital stationary night blindness 1D; not provided; Cholangiocarcinoma

View on ClinVar →

About SLC24A1

This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]