rs12150284

This variant is located in the GAS7 gene.

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GWAS Catalog Trait Associations (5)

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

intraocular pressure measurement

Gao XR et al. “Genome-wide association analyses identify new loci influencing intraocular pressure.” Human Molecular Genetics 27(12):2205-2213 (2018)
Allele C
OR 0.26
p 5.0e-77
N 115,486
Large GWAS
European
Bonnemaijer PWM et al. “Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.” Communications Biology 2:435 (2019)
Allele C
OR 0.24
p 7.0e-19
N 31,269
Large GWAS
European

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 C
OR 0.09
p 1.0e-57
N 430,721
Major Consortium StudyLarge GWAS
European
Zhou W et al. “Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.” Nature Genetics 50(9):1335-1341 (2018)
Allele C
OR —
p 9.0e-12
N 402,223
Large GWAS
European

drug use measurement, 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 C
OR 0.14
p 5.0e-29
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele T
OR 0.01
p 2.0e-17
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele T
OR 0.01
p 5.0e-8
N 405,540
Large GWAS
European

open-angle 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 C
OR 0.09
p 5.0e-47
N 434,033
Major Consortium StudyLarge GWAS
European
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 0.82
p 4.0e-16
N 53,141
Meta-analysisLarge GWAS
multi-ancestry
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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 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]

View all GAS7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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