rs3138142

This variant is located in the RDH5 gene.

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GWAS Catalog Trait Associations (10)

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

refractive error

Han X et al. “Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort: A Mendelian Randomization Study.” Jama Ophthalmology 138(6):671-678 (2020)
Allele T
OR 0.21
p 2.0e-57
N 95,827
Major Consortium StudyLarge GWAS
European

Myopia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.09
p 2.0e-33
N 398,816
Major Consortium StudyLarge GWAS
European
Boutin TS et al. “Insights into the genetic basis of retinal detachment.” Human Molecular Genetics 29(4):689-702 (2020)
Allele C
OR 1.26
p 7.0e-12
N 50,372
Large GWAS
European

Hypermetropia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.08
p 8.0e-28
N 394,687
Major Consortium StudyLarge GWAS
European

age at onset, eye measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 2.0e-17
N 394,642
Large GWAS
European

atrial fibrillation

Roselli C et al. “Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.” Nature Genetics 57(3):539-547 (2025)
Allele T
OR 1.03
p 4.0e-8
N 1,650,345
Meta-analysisLarge GWAS
multi-ancestry

retinal detachment

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.12
p 5.0e-8
N 647,323
Large GWAS
multi-ancestry

retinal layer thickness

Jackson VE et al. “Multi-omic spatial effects on high-resolution AI-derived retinal thickness.” Nature Communications 16(1):1317 (2025)
Allele T
OR 41.29
p 1.0e-58
N 43,151
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
6 submitters2 publications

not specified; Pigmentary retinal dystrophy; not provided

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]

View all RDH5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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