rs563555492
This variant is located in the PIEZO1 gene.
▶GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (10)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
HbA1c measurement
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele T
OR 0.53
p 2.0e-147
N 38,000
Large GWAS
South Asian
hemoglobin measurement
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele T
OR 0.21
p 3.0e-61
N 38,000
Large GWAS
South Asian
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.43
p 5.0e-22
N 8,189
Large GWAS
South Asian
bilirubin measurement
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele T
OR 0.24
p 1.0e-60
N 38,000
Large GWAS
South Asian
Red cell distribution width
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele T
OR 0.27
p 3.0e-50
N 38,000
Large GWAS
South Asian
erythrocyte count
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele T
OR 0.18
p 3.0e-39
N 38,000
Large GWAS
South Asian
erythrocyte volume
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele T
OR 0.21
p 4.0e-32
N 38,000
Large GWAS
South Asian
potassium measurement
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele T
OR 0.22
p 4.0e-31
N 38,000
Large GWAS
South Asian
hematocrit
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.33
p 6.0e-14
N 8,189
Large GWAS
South Asian
red blood cell density
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.30
p 9.0e-12
N 8,189
Large GWAS
South Asian
blood sedimentation trait
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele T
OR 0.13
p 5.0e-10
N 38,000
Large GWAS
South Asian
▶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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