rs3138144

This is a regulatory region variant variant in the RDH5 gene.

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GWAS Catalog Trait Associations (2)

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

refractive error

Tedja MS et al. “Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.” Nature Genetics 50(6):834-848 (2018)

Allele C

OR 0.12

p 8.0e-14

N 66,127

Meta-analysisLarge GWAS

multi-ancestry

Abnormality of refraction

Verhoeven VJ et al. “Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.” Nature Genetics 45(3):314-8 (2013)

Allele C

OR 0.12

p 4.0e-12

N 45,758

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

About RDH5

This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]