rs7964786

This is a regulatory region variant variant in the MLEC 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 2.0e-15

N 3,382,012

Large GWAS

European, East Asian, Hispanic or Latin American, African unspecified

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

About MLEC

This gene encodes the carbohydrate-binding protein malectin which is a Type I membrane-anchored endoplasmic reticulum protein. This protein has an affinity for Glc2Man9GlcNAc2 (G2M9) N-glycans and is involved in regulating glycosylation in the endoplasmic reticulum. This protein has also been shown to interact with ribophorin I and may be involved in the directing the degradation of misfolded proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

View all MLEC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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