rs74637339

This variant is located in the HACL1 gene.

▶

GWAS Catalog Trait Associations (6)

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

2-hydroxysebacate 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 A
OR 0.36
p 4.0e-26
N 7,865
Large GWAS
European

X-18913 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 A
OR 0.28
p 2.0e-16
N 8,271
Large GWAS
European

2-ketocaprylate 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 A
OR 0.28
p 1.0e-15
N 8,240
Large GWAS
European

2-hydroxyoctanoate measurement

Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele A
OR 0.24
p 4.0e-11
N 8,809
Large GWAS
European
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele A
OR 0.22
p 3.0e-10
N 8,224
Large GWAS
European
▶

ClinVar annotation

Benign
2 submitters

HACL1-related disorder; Uterine corpus endometrial carcinoma; Colon adenocarcinoma; Germ cell tumor of testis; Malignant lymphoma, large B-cell, diffuse; Colorectal cancer; Sarcoma; Thymoma; Melanoma; Acute myeloid leukemia; Nonpapillary renal cell carcinoma

View on ClinVar →

About HACL1

Enables several functions, including 2-hydroxyacyl-CoA lyase activity; ATP binding activity; and cation binding activity. Involved in fatty acid alpha-oxidation; phytanic acid metabolic process; and protein targeting to peroxisome. Located in nucleoplasm and peroxisome. [provided by Alliance of Genome Resources, Jul 2025]

View all HACL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…