rs857721

This variant is located in the SPTA1 gene.

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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 A
OR 0.08
p 3.0e-194
N 338,919
Major Consortium StudyLarge GWAS
multi-ancestry

bilirubin measurement

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.03
p 2.0e-50
N 928,679
Large GWAS
multi-ancestry
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 0.03
p 1.0e-18
N 302,607
Major Consortium StudyLarge GWAS
multi-ancestry

mean corpuscular hemoglobin concentration

Ganesh SK et al. “Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.” Nature Genetics 41(11):1191-8 (2009)
Allele A
OR 0.00
p 1.0e-10
N 24,167
Major Consortium StudyLarge GWAS
European

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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