rs2606736

This variant is located in the ATG7 gene.

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GWAS Catalog Trait Associations (4)

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

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele C
OR 0.01
p 8.0e-11
N 1,122,049
Large GWAS
European

triglyceride measurement, peripheral arterial disease

Bellomo TR et al. “Multi-Trait Genome-Wide Association Study of Atherosclerosis Detects Novel Pleiotropic Loci.” Frontiers in Genetics 12:787545 (2021)
Allele C
OR —
p 8.0e-9
N 747,009
Large GWAS
European

systolic blood pressure

Surendran P et al. “Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.” Nature Genetics 48(10):1151-1161 (2016)
Allele T
OR —
β 0.021
p 1.0e-8
N 192,763
Large GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele C
OR —
β 0.025
p 5.0e-8
N 94,595
Large GWAS
European

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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