rs12965607
This variant is located in the MYO5B gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
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 0.13
p 3.0e-16
N 95,827
Major Consortium StudyLarge GWAS
European
refractive error, age at onset, Myopia
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 T
OR 7.07
p 2.0e-12
N 170,420
Meta-analysisLarge GWAS
multi-ancestry
age at onset, Myopia
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 T
OR 0.07
p 8.0e-12
N 104,293
Meta-analysisLarge GWAS
European
apolipoprotein A 1 measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.02
p 3.0e-10
N 323,833
Major Consortium StudyLarge GWAS
multi-ancestry
Myopia
Xue Z et al. “Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank.” Ebiomedicine 82:104161 (2022)
Allele G
OR 0.09
p 2.0e-8
N 64,268
Meta-analysisMajor Consortium StudyLarge GWAS
European
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout MYO5B
The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]
View all MYO5B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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