rs12513758
This variant is located in the AFF4 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
alcohol consumption quality
Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele G
OR 0.01
p 1.0e-15
N 2,965,643
Large GWAS
European, East Asian, Hispanic or Latin American, African unspecified
Zhou H et al. “Genome-wide meta-analysis of problematic alcohol use in 435,563 individuals yields insights into biology and relationships with other traits.” Nature Neuroscience 23(7):809-818 (2020)
Allele G
OR 0.01
p 3.0e-9
N 972,915
Meta-analysisLarge GWAS
European
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout AFF4
The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]
View all AFF4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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