rs448203

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.

corneal resistance factor

He W et al. “Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging.” Jama Ophthalmology 140(6):568-576 (2022)
Allele T
OR 0.06
p 3.0e-43
N 123,734
Major Consortium StudyLarge GWAS
European
Jiang X et al. “Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants.” Communications Biology 3(1):762 (2020)
Allele T
OR 0.09
p 3.0e-26
N 76,029
Large GWAS
European

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 0.15
p 2.0e-27
N 115,486
Large GWAS
European
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ClinVar annotation

Benign★★★☆
4 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]

View all SEPTIN9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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