rs55758160
This variant is located in the PHYHD1 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.
2'-O-methylcytidine measurement
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele G
OR 0.23
p 3.0e-155
N 4,947
Large GWAS
European
guanine measurement
Rhee EP et al. “Trans-ethnic genome-wide association study of blood metabolites in the Chronic Renal Insufficiency Cohort (CRIC) study.” Kidney International 101(4):814-823 (2022)
Allele G
OR 0.38
p 1.0e-60
N 687
Small GWAS
African American or Afro-Caribbean
urinary metabolite measurement
Schlosser P et al. “Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.” Nature Genetics 52(2):167-176 (2020)
Allele G
OR 0.30
p 1.0e-55
N 1,221
Large GWAS
cytidine measurement
Rhee EP et al. “Trans-ethnic genome-wide association study of blood metabolites in the Chronic Renal Insufficiency Cohort (CRIC) study.” Kidney International 101(4):814-823 (2022)
Allele G
OR 0.29
p 3.0e-29
N 687
Small GWAS
African American or Afro-Caribbean
metabolite measurement
Tahir UA et al. “Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.” Nature Communications 13(1):4923 (2022)
Allele G
OR 0.46
p 2.0e-59
N 2,466
Large GWAS
multi-ancestry
About PHYHD1
Enables 2-oxoglutarate-dependent dioxygenase activity. [provided by Alliance of Genome Resources, Jul 2025]
View all PHYHD1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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