rs66824950

This is a intron variant variant in the GPM6B gene.

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GWAS Catalog Trait Associations (1)

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

glaucoma

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 T

OR 0.08

p 8.0e-9

N 68,390

Meta-analysisMajor Consortium StudyLarge GWAS

European

About GPM6B

This gene encodes a membrane glycoprotein that belongs to the proteolipid protein family. Proteolipid protein family members are expressed in most brain regions and are thought to be involved in cellular housekeeping functions such as membrane trafficking and cell-to-cell communication. This protein may also be involved in osteoblast differentiation. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes Y and 22. [provided by RefSeq, Jan 2016]

View all GPM6B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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