rs201514157

This variant is located in the SPTA1 gene.

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GWAS Catalog Trait Associations (4)

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

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 0.54
p 3.0e-37
N 408,112
Large GWAS
European

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 A
OR 0.47
p 1.0e-26
N 338,919
Major Consortium StudyLarge GWAS
multi-ancestry

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 0.37
p 2.0e-19
N 408,112
Large GWAS
European

reticulocyte count

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele A
OR 0.48
p 2.0e-10
N 170,761
Large GWAS
European
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ClinVar annotation

Uncertain Significance★★★☆
7 submitters4 publications

Hereditary spherocytosis type 3; Elliptocytosis 2; Pyropoikilocytosis, hereditary; not provided; SPTA1-related disorder; not specified

View on ClinVar →

About SPTA1

This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]

View all SPTA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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