rs240963

This is a intron variant variant in the REV3L gene.

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GWAS Catalog Trait Associations (1)

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

smoking initiation

Brazel DM et al. “Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use.” Biological Psychiatry 85(11):946-955 (2019)

Allele C

OR 0.03

p 2.0e-17

N 433,216

Meta-analysisLarge GWAS

European

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 0.02

p 4.0e-16

N 931,815

Large GWAS

European

About REV3L

The protein encoded by this gene represents the catalytic subunit of DNA polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it protects DNA from damage. Defects in this gene are a cause of Mobius syndrome. [provided by RefSeq, Jan 2017]

View all REV3L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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