rs4900574

This is a coding sequence variant variant in the MARK3 gene.

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GWAS Catalog Trait Associations (2)

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

hypertension, Antihypertensive use measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.04

p 3.0e-13

N 315,668

Major Consortium StudyLarge GWAS

European

body height

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.04

p 9.0e-38

N 607,510

Major Consortium StudyLarge GWAS

multi-ancestry

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Research that mentions this SNP (1)

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Identification of candidate genes carrying polymorphisms associated with the risk of colorectal cancer by analyzing the colorectal mutome and microRNAome

FunctionalN=23Debora Landi et al.(2012)· Cancer

Bioinformatics analysis of exome sequencing data from 23 colorectal cancer patients treated with Cetuximab to identify candidate genes explaining differential skin rash response. Using a novel Molecular Systems Map approach, the study identified 12 candidate genes (C3, CCNK, CD86, CDH11, COL4A4, GRIP2, NUP210, P3H3, STUB1, TLR5, KISS1, ERMAP) with variants potentially affecting EGFR signaling, immune response, and cell adhesion pathways.

Traits studied:Cetuximab-induced skin rash in colorectal cancer

PubMed DOI Metascience Observatory

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]