rs2279463

This variant is located in the SLC22A2 gene.

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GWAS Catalog Trait Associations (4)

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

serum creatinine amount, glomerular filtration rate

Pattaro C et al. “Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.” Nature Communications 7:10023 (2016)
Allele A
OR 0.01
p 7.0e-18
N 118,448
Large GWAS
European
Gorski M et al. “1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.” Scientific Reports 7:45040 (2017)
Allele A
OR 0.01
p 1.0e-15
N 110,517
Meta-analysisLarge GWAS
European

chronic kidney disease, serum creatinine amount

Köttgen A et al. “New loci associated with kidney function and chronic kidney disease.” Nature Genetics 42(5):376-84 (2010)
Allele G
OR 0.01
p 6.0e-12
N 67,093
Large GWAS
European

glomerular filtration rate

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 G
OR 0.06
p 6.0e-56
N 571,227
Major Consortium StudyLarge GWAS
multi-ancestry
Loeb GB et al. “Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.” Nature Genetics 56(10):2078-2092 (2024)
Allele G
OR 0.03
p 6.0e-29
N 406,504
Large GWAS
European
Graham SE et al. “Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.” Nature Communications 10(1):1847 (2019)
Allele G
OR 11.76
p 6.0e-32
N 350,514
Meta-analysisLarge GWAS
multi-ancestry
Hellwege JN et al. “Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.” Nature Communications 10(1):3842 (2019)
Allele G
OR 0.80
p 2.0e-27
N 188,993
Major Consortium StudyLarge GWAS
multi-ancestry

serum creatinine amount

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 A
OR 0.06
p 2.0e-62
N 602,615
Major Consortium StudyLarge GWAS
multi-ancestry
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.05
p 3.0e-23
N 110,051
Large GWAS
European
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele A
OR 0.05
p 9.0e-19
N 84,405
Large GWAS
European
Graham SE et al. “Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.” Nature Communications 10(1):1847 (2019)
Allele A
OR 0.07
p 1.0e-14
N 69,591
Meta-analysisLarge GWAS
European

About SLC22A2

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008]

View all SLC22A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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