rs202127176
This variant is located in the PIEZO1 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
HbA1c measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.48
p 4.0e-92
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 C
OR 0.37
p 6.0e-36
N 408,112
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 C
OR 0.33
p 3.0e-29
N 408,112
Large GWAS
European
body height
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.13
p 5.0e-23
N 394,642
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 C
OR 0.25
p 7.0e-14
N 408,112
Large GWAS
European
▶ClinVar annotation
Conflicting Classifications
7 submitters7 publicationsnot provided; PIEZO1-related disorder; 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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