rs1579050
This is a regulatory region variant variant in the FMNL2 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
open-angle glaucoma
Gharahkhani P et al. “Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.” Nature Communications 12(1):1258 (2021)
Allele A
OR —
β 0.092
p 3.0e-37
N 383,500
Meta-analysisLarge GWAS
multi-ancestry
intraocular pressure measurement
Craig JE et al. “Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.” Nature Genetics 52(2):160-166 (2020)
Allele A
OR —
p 4.0e-26
N 133,492
Large GWAS
European
Khawaja AP et al. “Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.” Nature Genetics 50(6):778-782 (2018)
Allele A
OR 0.13
p 7.0e-25
N 139,555
Large GWAS
European
Gao XR et al. “Genome-wide association analyses identify new loci influencing intraocular pressure.” Human Molecular Genetics 27(12):2205-2213 (2018)
Allele A
OR 0.13
p 1.0e-22
N 115,486
Large GWAS
European
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 A
OR 0.15
p 2.0e-23
N 101,939
Major Consortium StudyLarge GWAS
European
cup-to-disc ratio measurement
Craig JE et al. “Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.” Nature Genetics 52(2):160-166 (2020)
Allele A
OR 0.01
p 4.0e-9
N 67,040
Large GWAS
European
About FMNL2
This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
View all FMNL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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