rs78062588
This is a regulatory region variant variant in the ADAR gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
smoking status measurement
Liu M et al. “Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use.” Nature Genetics 51(2):237-244 (2019)
Allele C
OR 0.01
p 2.0e-9
N 1,359,002
Large GWAS
European
lung cancer, family history of lung cancer
Gabriel AAG et al. “Genetic Analysis of Lung Cancer and the Germline Impact on Somatic Mutation Burden.” Journal of the National Cancer Institute 114(8):1159-1166 (2022)
Allele C
OR 0.90
p 4.0e-8
N 329,946
Large GWAS
European
About ADAR
This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
View all ADAR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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