rs80044408

This variant is located in the MACROD2 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

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)

Allele T

OR 0.01

p 1.0e-10

N 2,669,029

Large GWAS

European

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ClinVar annotation

Benign

2 submitters

MACROD2-related disorder; Adrenocortical carcinoma, hereditary; Uterine corpus endometrial carcinoma; Malignant lymphoma, large B-cell, diffuse; Colon adenocarcinoma; Thymoma; Nonpapillary renal cell carcinoma; Cervical cancer

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About MACROD2

The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017]

View all MACROD2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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