rs55785724

This is a regulatory region variant variant in the SLC34A1 gene.

GWAS Catalog Trait Associations (3)

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

hemoglobin measurement

Allele A
OR 0.03
p 3.0e-11
N 149,861
Large GWAS
East Asian

C-glycosyltryptophan measurement

Allele A
OR 0.06
p 3.0e-9
N 14,296
Large GWAS
European

etiocholanolone glucuronide measurement

Allele A
OR 0.06
p 9.0e-9
N 14,296
Large GWAS
European

About SLC34A1

Enables sodium:phosphate symporter activity. Involved in several processes, including phosphate ion homeostasis; response to cadmium ion; and response to lead ion. Located in several cellular components, including apical plasma membrane; mitotic spindle; and nuclear speck. Implicated in several diseases, including Fanconi syndrome (multiple); chronic kidney disease; hereditary hypophosphatemic rickets with hypercalciuria; hypophosphatemic nephrolithiasis/osteoporosis 1; and nephrolithiasis. [provided by Alliance of Genome Resources, Jul 2025]

View all SLC34A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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