rs3812036

This variant is located in the SLC34A1 gene.

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GWAS Catalog Trait Associations (5)

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

serum creatinine amount

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.04
p 4.0e-193
N 928,679
Large GWAS
multi-ancestry
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 0.06
p 3.0e-66
N 602,615
Major Consortium StudyLarge GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.03
p 5.0e-20
N 150,266
Large GWAS
East Asian
Nagy R et al. “Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.” Genome Medicine 9(1):23 (2017)
Allele T
OR 0.09
p 1.0e-10
N 23,210
Major Consortium StudyLarge GWAS
European

glomerular filtration rate

Liu H et al. “Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.” Nature Genetics 54(7):950-962 (2022)
Allele T
OR 27.50
p 2.0e-166
N 1,508,659
Large GWAS
multi-ancestry
Stanzick KJ et al. “Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.” Nature Communications 12(1):4350 (2021)
Allele T
OR 0.01
p 2.0e-121
N 1,004,040
Large GWAS
European
Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)
Allele T
OR 0.01
p 3.0e-114
N 765,348
Large GWAS
multi-ancestry
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 0.06
p 7.0e-64
N 571,227
Major Consortium StudyLarge GWAS
multi-ancestry
Graham SE et al. “Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.” Nature Communications 10(1):1847 (2019)
Allele T
OR 15.17
p 6.0e-52
N 350,514
Meta-analysisLarge GWAS
multi-ancestry
Morris AP et al. “Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.” Nature Communications 10(1):29 (2019)
Allele T
OR 0.80
p 1.0e-32
N 312,296
Large GWAS
multi-ancestry
Lee DJ et al. “Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants.” Kidney Research and Clinical Practice 43(3):299-312 (2024)
Allele T
OR 0.69
p 2.0e-17
N 58,406
Large GWAS
East Asian

serum creatinine amount, glomerular filtration rate

Gorski M et al. “1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.” Scientific Reports 7:45040 (2017)
Allele T
OR 0.01
p 9.0e-19
N 110,517
Meta-analysisLarge GWAS
European

chronic kidney disease

Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)
Allele T
OR 1.07
p 1.0e-12
N 625,219
Large GWAS
European, NR

superoxide dismutase [Mn]; mitochondrial measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele T
OR 0.23
p 1.0e-12
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
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ClinVar annotation

Benign★★★☆
6 submitters2 publications

not provided; not specified; Hypercalcemia, infantile, 2; Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2

View on ClinVar →

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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