rs6434068

This is a intron variant variant in the FMNL2 gene.

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GWAS Catalog Trait Associations (2)

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

open-angle glaucoma

Han X et al. “Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.” Nature Genetics 55(7):1116-1125 (2023)
Allele C
OR 0.11
p 3.0e-40
N 432,017
Large GWAS
multi-ancestry
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 0.05
p 2.0e-17
N 434,033
Major Consortium StudyLarge GWAS
European
Choquet H et al. “A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.” Nature Communications 9(1):2278 (2018)
Allele C
OR 1.10
p 2.0e-11
N 240,302
Large GWAS
multi-ancestry
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 C
OR 1.10
p 3.0e-8
N 159,579
Meta-analysisLarge GWAS
multi-ancestry

glaucoma

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 G
OR 0.04
p 5.0e-18
N 430,721
Major Consortium StudyLarge 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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