rs12459249
This is a regulatory region variant variant.
▶GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
nicotine metabolite ratio
Chenoweth MJ et al. “Genome-wide association study of a nicotine metabolism biomarker in African American smokers: impact of chromosome 19 genetic influences.” Addiction (abingdon, England) 113(3):509-523 (2018)
Allele C
OR 0.59
p 1.0e-39
N 954
Small GWAS
African American or Afro-Caribbean
serum alanine aminotransferase amount
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.02
p 3.0e-16
N 406,783
Major Consortium StudyLarge GWAS
European
smoking status measurement
Xu K et al. “Genome-wide association study of smoking trajectory and meta-analysis of smoking status in 842,000 individuals.” Nature Communications 11(1):5302 (2020)
Allele C
OR 0.94
p 8.0e-15
N 202,116
Meta-analysisLarge GWAS
multi-ancestry
chronic bronchitis
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.07
p 2.0e-14
N 604,822
Major Consortium StudyLarge GWAS
multi-ancestry
cigarettes per day measurement
Xu K et al. “Genome-wide association study of smoking trajectory and meta-analysis of smoking status in 842,000 individuals.” Nature Communications 11(1):5302 (2020)
Allele T
OR —
β 0.033
p 1.0e-11
N 77,515
Meta-analysisLarge GWAS
European
coffee consumption measurement
Schoeler T et al. “Participation bias in the UK Biobank distorts genetic associations and downstream analyses.” Nature Human Behaviour 7(7):1216-1227 (2023)
Allele T
OR 0.04
p 4.0e-10
N 263,464
Major Consortium StudyLarge GWAS
European
chronic obstructive pulmonary disease
Hobbs BD et al. “Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.” Nature Genetics 49(3):426-432 (2017)
Allele C
OR 1.10
p 3.0e-8
N 58,918
Large GWAS
multi-ancestry
This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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