rs4519530

This is a regulatory region variant variant in the MERTK gene.

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GWAS Catalog Trait Associations (1)

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

Cluster headache

O'Connor E et al. “Genome-Wide Association Study Identifies Risk Loci for Cluster Headache.” Annals of Neurology 90(2):193-202 (2021)

Allele C

OR 1.47

p 7.0e-17

N 8,191

Large GWAS

European

About MERTK

This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008]

View all MERTK variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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