rs2467853
This is a upstream gene variant variant in the SPATA5L1 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
glomerular filtration rate
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 T
OR 0.01
p 3.0e-124
N 280,722
Major Consortium StudyLarge GWAS
multi-ancestry
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 T
OR 0.01
p 1.0e-42
N 133,413
Large GWAS
multi-ancestry
serum creatinine amount
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele T
OR 0.04
p 2.0e-34
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 T
OR 0.04
p 3.0e-26
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 T
OR 0.07
p 1.0e-26
N 69,591
Meta-analysisLarge GWAS
European
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.07
p 2.0e-12
N 14,296
Large GWAS
European
urinary system trait
Köttgen A et al. “Multiple loci associated with indices of renal function and chronic kidney disease.” Nature Genetics 41(6):712-7 (2009)
Allele G
OR 0.01
p 6.0e-14
N 19,877
Large GWAS
European
chronic kidney disease
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 G
OR 1.11
p 2.0e-11
N 117,165
Large GWAS
European
This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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