rs10276670

This is a intron variant variant in the AQP1 gene.

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GWAS Catalog Trait Associations (2)

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

bone fracture

Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)

Allele A

OR 0.06

p 3.0e-55

N 426,795

Large GWAS

European

heel bone mineral density

Kemp JP et al. “Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis.” Nature Genetics 49(10):1468-1475 (2017)

Allele A

OR 0.05

p 2.0e-34

N 142,487

Large GWAS

European

About AQP1

This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016]

View all AQP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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