rs112977309

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.

corneal endothelial cell attribute

Ivarsdottir EV et al. “Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.” Nature Communications 10(1):1284 (2019)

Allele C

OR 0.63

p 1.0e-26

N 6,125

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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