rs931794

This variant is located in the HYKK gene.

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GWAS Catalog Trait Associations (7)

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

peripheral arterial disease

van Zuydam NR et al. “Genome-Wide Association Study of Peripheral Artery Disease.” Circulation. Genomic and Precision Medicine 14(5):e002862 (2021)
Allele G
OR 1.14
p 4.0e-10
N 1,270,761
Large GWAS
European

osteoarthritis, knee

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele A
OR 1.03
p 3.0e-9
N 1,316,500
Large GWAS
multi-ancestry

parental longevity

Wright KM et al. “A Prospective Analysis of Genetic Variants Associated with Human Lifespan.” G3 (bethesda, Md.) 9(9):2863-2878 (2019)
Allele G
OR 0.02
p 3.0e-9
N 309,383
Large GWAS
European

pneumothorax

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.17
p 4.0e-8
N 654,724
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Markers in the 15q24 nicotinic receptor subunit gene cluster (CHRNA5‐A3‐B4) predict severity of nicotine addiction and response to smoking cessation therapy
Meta-analysisN=19,747Jane E. Sarginson et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This PhD thesis comprehensively explores associations between the CHRNA5-A3-B4 nicotinic acetylcholine receptor gene cluster and smoking-related behaviors. Using systematic review/meta-analysis, genetic epidemiology, laboratory-based techniques, and genome-wide meta-analysis, the study found compelling evidence for a small, robust association between rs16969968/rs1051730 and daily cigarette consumption with a per-allele effect of approximately one cigarette per day (beta≈1.0). A genome-wide meta-analysis of cotinine levels in 2,139 current smokers identified multiple variants in the CHRNA5 region strongly associated with tobacco exposure. However, no association was observed with smoking initiation in a prospectively-assessed cohort.

Traits studied:Cotinine levelsDaily cigarette consumptionHeaviness of smokingNicotine dependenceSmoking behavior trajectoriesSmoking initiationSmoking quantitySmoking topographyTobacco exposure
PubMedDOIMetascience Observatory

About HYKK

Enables hydroxylysine kinase activity. Predicted to be involved in lysine catabolic process. Predicted to be located in mitochondrial matrix. [provided by Alliance of Genome Resources, Jul 2025]

View all HYKK variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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