rs10918274
This variant is located in the TMCO1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
intraocular pressure measurement
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 T
OR 0.38
p 2.0e-87
N 139,555
Large GWAS
European
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 T
OR —
p 4.0e-67
N 133,492
Large GWAS
European
Springelkamp H et al. “New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.” Human Molecular Genetics 26(2):438-453 (2017)
Allele T
OR 0.27
p 2.0e-12
N 29,578
Large GWAS
multi-ancestry
glaucoma
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 T
OR 1.37
p 4.0e-43
N 127,265
Large GWAS
European
About TMCO1
This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
View all TMCO1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…