rs351242

This variant is located in the STRA6 gene.

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GWAS Catalog Trait Associations (3)

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

cups of coffee per day measurement

Kennedy OJ et al. “Coffee Consumption and Kidney Function: A Mendelian Randomization Study.” American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation 75(5):753-761 (2020)
Allele A
OR —
β 0.062
p 1.0e-19
N 227,666
Large GWAS
European

Abnormality of the skeletal system

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.01
p 3.0e-15
N 394,642
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

About STRA6

The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

View all STRA6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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