rs1945784
This is a intron variant variant in the HEPHL1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
serum alanine aminotransferase amount
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 0.02
p 2.0e-23
N 355,729
Major Consortium StudyLarge GWAS
multi-ancestry
aspartate aminotransferase to alanine aminotransferase ratio
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 0.02
p 2.0e-15
N 354,455
Major Consortium StudyLarge GWAS
multi-ancestry
aspartate aminotransferase 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 0.02
p 6.0e-12
N 354,541
Major Consortium StudyLarge GWAS
multi-ancestry
About HEPHL1
Enables ferroxidase activity. Involved in intracellular iron ion homeostasis. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all HEPHL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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