rs145526996

This variant is located in the ABCB6 gene.

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GWAS Catalog Trait Associations (1)

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

reticulocyte count

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.08

p 3.0e-12

N 394,642

Large GWAS

European

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ClinVar annotation

Conflicting Classifications

7 submitters1 publication

not provided; Protoporphyria, erythropoietic, 1; Variegate porphyria; Acute intermittent porphyria; Hereditary coproporphyria

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About ABCB6

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]

View all ABCB6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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