RS16969968 CHRNA5
Upload your DNA to see your genotype for this variant.
What This Variant Does
"Associated with smoking phenotype (p=0.007) based on association study of 2,000 individuals, and fu...
Associated Conditions
Lung cancer susceptibility 2
SMOKING AS A QUANTITATIVE TRAIT LOCUS 3
nicotine response - Toxicity
Susceptibility to severe coronavirus disease (COVID-19) due to high levels of fibrinogen and C-reactive protein
Lung cancer susceptibility 2
SMOKING AS A QUANTITATIVE TRAIT LOCUS 3
nicotine response - Toxicity
Susceptibility to severe coronavirus disease (COVID-19) due to high levels of fibrinogen and C-reactive protein
GWAS Studies (15)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Smoking behaviour (cigarettes smoked per day) | A | β: 0.096 | 3E-139 | PubMed |
| Lung cancer | A | OR: 0.22 | 2E-54 | PubMed |
| Fagerstrӧm test for nicotine dependence | G | OR: 0.23 | 4E-28 | PubMed |
| Chronic obstructive pulmonary disease | A | OR: 1.11 | 5E-25 | PubMed |
| Small cell lung carcinoma | — | OR: 0.26 | 1E-23 | PubMed |
| Time to smoke first cigarette in the morning | G | β: 0.07 | 1E-17 | PubMed |
| Post bronchodilator FEV1/FVC ratio | A | β: 0.017 | 1E-15 | PubMed |
| Post bronchodilator FEV1 | A | β: 0.078 | 6E-15 | PubMed |
| Cryptic phenotype that captures alpha-1-antitrypsin deficiency severity | A | β: 0.006 | 3E-12 | PubMed |
| Pre bronchodilator FEV1/FVC ratio | — | β: 0.017 | 2E-10 | PubMed |
| Chronic airway obstruction (time to event) x smoking status interaction | — | — | 8E-10 | PubMed |
| Pre bronchodilator FEV1 | — | β: 0.08 | 2E-9 | PubMed |
| Chronic airway obstruction (time to event) x smoking status interaction | — | — | 6E-9 | PubMed |
| ICD10 Z72.0: Tobacco use | — | — | 2E-7 | PubMed |
| Post bronchodilator FEV1/FVC ratio in COPD | A | β: 0.012 | 4E-7 | PubMed |
ClinVar Assertions (1)
NM_000745.4(CHRNA5):c.1192G>A (p.Asp398Asn)
Population Frequencies
gnomAD ALL
30.8%
1kG AFR
2.3%
1kG ALL
15%
1kG AMR
20.9%
1kG EAS
97.3%
1kG EUR
63.4%
1kG SAS
18.2%