rs8085664

This variant is located in the SLC14A2 gene.

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GWAS Catalog Trait Associations (2)

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

alopecia

Hagenaars SP et al. “Genetic prediction of male pattern baldness.” Plos Genetics 13(2):e1006594 (2017)

Allele A

OR —

β 0.074

p 3.0e-27

N 52,874

Large GWAS

European

androgenetic alopecia

Pirastu N et al. “GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.” Nature Communications 8(1):1584 (2017)

Allele C

OR 0.16

p 8.0e-25

N 43,590

Large GWAS

European

About SLC14A2

The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]

View all SLC14A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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