rs201226914
This is a variant in the PIEZO1 gene that changes a leucine to an methionine.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
HbA1c measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.55
p 1.0e-68
N 338,919
Major Consortium StudyLarge GWAS
multi-ancestry
Willems SM et al. “Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.” Wellcome Open Research 8:483 (2023)
Allele T
OR 0.16
p 4.0e-26
N 144,060
Large GWAS
multi-ancestry
bilirubin measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.20
p 3.0e-10
N 354,368
Major Consortium StudyLarge GWAS
multi-ancestry
reticulocyte amount
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.18
p 5.0e-9
N 408,112
Large GWAS
European
▶ClinVar annotation
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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