rs857725

This is a variant in the SPTA1 gene that changes a lysine to an glutamine.

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GWAS Catalog Trait Associations (6)

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 G
OR 0.07
p 1.0e-261
N 394,642
Large GWAS
European
Chen J et al. “The trans-ancestral genomic architecture of glycemic traits.” Nature Genetics 53(6):840-860 (2021)
Allele G
OR 0.02
p 5.0e-55
N 146,806
Large GWAS
European
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 G
OR 0.02
p 2.0e-50
N 144,060
Large GWAS
multi-ancestry

mean corpuscular hemoglobin concentration

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.05
p 3.0e-59
N 583,883
Major Consortium StudyLarge GWAS
multi-ancestry

bilirubin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.03
p 2.0e-58
N 394,642
Large GWAS
European

neutrophil percentage of leukocytes

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.02
p 2.0e-19
N 394,642
Large GWAS
European

monocyte count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.03
p 7.0e-17
N 296,975
Major Consortium StudyLarge GWAS
European

hemoglobin measurement

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 G
OR —
p 7.0e-17
N 746,431
Large GWAS
multi-ancestry
Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele G
OR —
β 0.016
p 3.0e-11
N 684,122
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.01
p 3.0e-9
N 502,921
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
8 submitters2 publications

Elliptocytosis 2 (EL2); Hereditary spherocytosis type 3; Pyropoikilocytosis, hereditary; 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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