rs9038

This variant is located in the SEPTIN9 gene.

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GWAS Catalog Trait Associations (3)

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

cataract

Choquet H et al. “A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.” Nature Communications 12(1):3595 (2021)

Allele C

OR 0.96

p 9.0e-28

N 586,243

Meta-analysisLarge GWAS

multi-ancestry

intraocular pressure measurement

Gao XR et al. “Genome-wide association analyses identify new loci influencing intraocular pressure.” Human Molecular Genetics 27(12):2205-2213 (2018)

Allele T

OR 0.14

p 2.0e-23

N 115,486

Large GWAS

European

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 0.07

p 4.0e-10

N 95,827

Major Consortium StudyLarge GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

Amyotrophic neuralgia; not provided

View on ClinVar →

About SEPTIN9

This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]