rs2594973

This is a intron variant variant in the ATG7 gene.

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GWAS Catalog Trait Associations (1)

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

aspartate aminotransferase measurement

Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)

Allele C

OR 5.64

p 2.0e-8

N 389,565

Large GWAS

multi-ancestry

About ATG7

This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

View all ATG7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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