rs7555523

This variant is located in the TMCO1 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

Bailey JN et al. “Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.” Nature Genetics 48(2):189-94 (2016)
Allele A
OR —
p 1.0e-12
N 33,365
Large GWAS
European

intraocular pressure measurement

Hysi PG et al. “Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.” Nature Genetics 46(10):1126-1130 (2014)
Allele C
OR 0.23
p 2.0e-9
N 35,296
Large GWAS
multi-ancestry
van Koolwijk LM et al. “Common genetic determinants of intraocular pressure and primary open-angle glaucoma.” Plos Genetics 8(5):e1002611 (2012)
Allele C
OR 0.28
p 2.0e-8
N 11,972
Large GWAS
European
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Research that mentions this SNP (1)

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Genome-wide association study and meta-analysis of intraocular pressure
Meta-analysisN=6,236Ozel AB et al.(2014)· Human Genetics

Genome-wide association study and meta-analysis of intraocular pressure (IOP) in 6,236 European ancestry subjects from three cohorts (NEIGHBOR, GLAUGEN, AMD-MMAP MI). Meta-analysis identified a significant association at TMCO1 (rs7518099-G, beta = 0.76 mmHg/allele, p = 8.0 × 10−8). The study replicated previously reported associations at TMCO1, CDKN2B-AS1, GAS7, CAV1/CAV2, and SIX1/SIX6 loci with consistent effect sizes and directions. Results show gender-specific effects and age-dependent trends for IOP association with common variants.

Traits studied:Intraocular pressurePrimary open-angle glaucoma
PubMedDOIMetascience Observatory

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.

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