rs9796234

This variant is located in the GRK1 gene.

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GWAS Catalog Trait Associations (1)

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

photoreceptor cell layer thickness measurement

Currant H et al. “Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.” Plos Genetics 19(2):e1010587 (2023)

Allele C

OR 0.27

p 5.0e-18

N 31,135

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

About GRK1

This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). [provided by RefSeq, Jul 2008]

View all GRK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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