rs2273699

This variant is located in the MARK3 gene.

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GWAS Catalog Trait Associations (1)

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

cutaneous melanoma, hair color

Landi MT et al. “Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.” Nature Genetics 52(5):494-504 (2020)

Allele A

OR —

p 1.0e-16

N 764,610

Large GWAS

European

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ClinVar annotation

Benign★★★☆

4 submitters1 publication

Visual impairment and progressive phthisis bulbi; MARK3-related disorder; not provided; Hepatocellular carcinoma; Malignant lymphoma, large B-cell, diffuse

View on ClinVar →

About MARK3

The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

View all MARK3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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