rs55924349

This variant is located 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.

level of tyrosine-protein kinase Mer in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.57

p 4.0e-21

N 47,745

Large GWAS

European

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ClinVar annotation

Conflicting Classifications

3 submitters3 publications

not provided; Retinitis pigmentosa; Retinitis pigmentosa 38

View on ClinVar →

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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