rs10445033

This is a regulatory region variant variant in the PIEZO1 gene.

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GWAS Catalog Trait Associations (1)

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

mean corpuscular hemoglobin concentration

van der Harst P et al. “Seventy-five genetic loci influencing the human red blood cell.” Nature 492(7429):369-75 (2012)

Allele G

OR —

β 0.020

p 2.0e-22

N 71,861

Large GWAS

multi-ancestry

About PIEZO1

The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]

View all PIEZO1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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