rs145119400

This variant is located in the SLC38A8 gene.

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GWAS Catalog Trait Associations (1)

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

adiponectin measurement

Spracklen CN et al. “Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology.” American Journal of Human Genetics 105(1):15-28 (2019)

Allele A

OR 0.31

p 8.0e-15

N 67,739

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

View on ClinVar →

About SLC38A8

This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]

View all SLC38A8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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