rs199690076

This variant is located in the SLC34A3 gene.

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GWAS Catalog Trait Associations (5)

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

cystatin C 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 T
OR 0.41
p 3.0e-25
N 355,752
Major Consortium StudyLarge GWAS
multi-ancestry

serum creatinine amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.38
p 1.0e-21
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry

glomerular filtration rate

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.37
p 3.0e-21
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry

blood phosphate 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 T
OR 0.32
p 5.0e-15
N 325,141
Major Consortium StudyLarge GWAS
multi-ancestry

serum urea amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.28
p 2.0e-12
N 355,637
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Pathogenic★★★☆
16 submitters9 publications

Autosomal recessive hypophosphatemic bone disease; not provided; SLC34A3-related disorder; Hypophosphataemia or rickets

View on ClinVar →

About SLC34A3

This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]

View all SLC34A3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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