rs57294583
This is a regulatory region variant variant in the PHYHD1 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
2'-O-methyluridine measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.73
p 5.0e-303
N 5,797
Large GWAS
multi-ancestry
2'-O-methylcytidine measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.67
p 1.0e-294
N 6,160
Large GWAS
multi-ancestry
guanine 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 0.79
p 5.0e-152
N 2,466
Large GWAS
multi-ancestry
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 0.69
p 7.0e-117
N 2,466
Large GWAS
multi-ancestry
Panyard DJ et al. “Cerebrospinal fluid metabolomics identifies 19 brain-related phenotype associations.” Communications Biology 4(1):63 (2021)
Allele G
OR 0.12
p 7.0e-44
N 291
Small GWAS
European
1-methylguanosine 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 0.30
p 5.0e-23
N 2,466
Large GWAS
multi-ancestry
serum metabolite level
Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)
Allele A
OR 0.67
p 4.0e-189
N 3,926
Large GWAS
Hispanic or Latin American
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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