rs660550

This variant is located in the SLC44A4 gene.

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GWAS Catalog Trait Associations (1)

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 0.034

p 8.0e-9

N 227,666

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

Hearing loss, autosomal dominant 72; not provided

View on ClinVar →

About SLC44A4

The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

View all SLC44A4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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