rs4580814
This is a regulatory region variant variant in the SLC12A7 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 T
OR 0.01
p 1.0e-13
N 563,946
Large GWAS
European
Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele T
OR —
β 0.010
p 2.0e-8
N 684,122
Large GWAS
European
hemoglobin measurement, mean corpuscular hemoglobin concentration
Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)
Allele T
OR 0.08
p 5.0e-10
N 14,377
Large GWAS
East Asian
mean corpuscular hemoglobin concentration
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 0.03
p 5.0e-47
N 491,553
Large GWAS
European
About SLC12A7
Enables protein kinase binding activity. Predicted to be involved in several processes, including chloride ion homeostasis; monoatomic ion transmembrane transport; and potassium ion homeostasis. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]
View all SLC12A7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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