rs2970818
This variant is located in the C12orf4 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 A
OR 0.14
p 2.0e-254
N 325,141
Major Consortium StudyLarge GWAS
multi-ancestry
alkaline phosphatase measurement
Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele T
OR 0.00
p 4.0e-36
N 437,438
Large GWAS
European
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 0.04
p 4.0e-26
N 463,178
Large GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.03
p 6.0e-29
N 394,642
Large GWAS
European
Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)
Allele T
OR 7.52
p 5.0e-14
N 390,964
Large GWAS
multi-ancestry
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 0.04
p 5.0e-26
N 355,891
Major Consortium StudyLarge GWAS
multi-ancestry
calcium 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 A
OR 0.03
p 1.0e-9
N 325,659
Major Consortium StudyLarge GWAS
multi-ancestry
phosphorus measurement
Kestenbaum B et al. “Common genetic variants associate with serum phosphorus concentration.” Journal of the American Society of Nephrology : Jasn 21(7):1223-32 (2010)
Allele A
OR —
β 0.050
p 4.0e-9
N 16,264
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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