rs61745086

This variant is located in the PIEZO1 gene.

GWAS Catalog Trait Associations (8)

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

HbA1c measurement

Allele A
OR 0.20
p 8.0e-101
N 394,642
Large GWAS
European

hemoglobin measurement

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.13
p 6.0e-29
N 408,112
Large GWAS
European

mean corpuscular hemoglobin concentration

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.09
p 9.0e-19
N 408,112
Large GWAS
European

erythrocyte count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.09
p 8.0e-16
N 408,112
Large GWAS
European

hematocrit

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.09
p 7.0e-15
N 408,112
Large GWAS
European

body height

Allele A
OR 0.04
p 3.0e-12
N 394,642
Large GWAS
European
Allele A
OR 0.04
p 2.0e-11
N 405,540
Large GWAS
European

reticulocyte amount

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.10
p 3.0e-17
N 408,112
Large GWAS
European
Allele A
OR 0.08
p 3.0e-17
N 394,642
Large GWAS
European

reticulocyte count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.11
p 2.0e-21
N 408,112
Large GWAS
European
Allele A
OR 0.09
p 2.0e-20
N 394,642
Large GWAS
European
Allele A
OR 0.12
p 4.0e-11
N 170,641
Large GWAS
European

ClinVar annotation

Conflicting Classifications
7 submitters6 publications

not provided; not specified

View on ClinVar →

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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