rs11656696

This variant is located in the GAS7 gene.

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GWAS Catalog Trait Associations (2)

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

cortical thickness

van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)

Allele A

OR 5.94

p 3.0e-9

N 33,748

Large GWAS

European

intraocular pressure measurement

van Koolwijk LM et al. “Common genetic determinants of intraocular pressure and primary open-angle glaucoma.” Plos Genetics 8(5):e1002611 (2012)

Allele A

OR 0.19

p 1.0e-8

N 11,972

Large GWAS

European

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Research that mentions this SNP (2)

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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

PubMed DOI Metascience Observatory

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Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme

Case reportN=74Gabriela Chavarria-Soley et al.(2008)· Human Mutation

This NGS-based study analyzed 72 glaucoma-related genes in 61 patients with primary open-angle glaucoma (POAG) and found 9 rare variants in 16% of patients, including variants in CYP1B1 (p.Y81N, p.S28W), SIX6 (p.T212M), CARD10 (p.T436M, p.C984X), MFN1 (p.R534Q, p.E701X), OPTC (p.R298H), OPTN (p.Q518X), and WDR36 (p.E298N). Additionally, hypomorphic variants were identified in 8% of POAG patients, suggesting NGS is valuable for genetic assessment and early diagnosis.

Traits studied:Early-onset POAGLow-tension glaucomaPrimary open-angle glaucoma

PubMed DOI Metascience Observatory

About GAS7

Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008]