rs1154510

This is a variant in the HPD gene that changes a threonine to an alanine.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

beta-hydroxyisovalerate measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)

Allele C

OR 0.21

p 8.0e-21

N 8,201

Large GWAS

European

4-hydroxyphenylpyruvate measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)

Allele C

OR 0.16

p 3.0e-11

N 7,813

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters8 publications

Hawkinsinuria; Tyrosinemia type III; not specified

View on ClinVar →

About HPD

The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]