rs9913911

This is a regulatory region variant variant in the GAS7 gene.

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GWAS Catalog Trait Associations (7)

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

open-angle glaucoma

Han X et al. “Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.” Nature Genetics 55(7):1116-1125 (2023)
Allele A
OR 0.16
p 6.0e-83
N 432,017
Large GWAS
multi-ancestry
Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele A
OR 0.12
p 4.0e-35
N 1,487,447
Meta-analysisLarge GWAS
multi-ancestry
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 A
OR 0.13
p 2.0e-44
N 628,741
Major Consortium StudyLarge GWAS
multi-ancestry
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 A
OR 0.14
p 2.0e-73
N 383,500
Meta-analysisLarge GWAS
multi-ancestry
Choquet H et al. “A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.” Nature Communications 9(1):2278 (2018)
Allele A
OR 1.17
p 2.0e-17
N 63,412
Large GWAS
multi-ancestry

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 A
OR 0.27
p 1.0e-78
N 115,486
Large GWAS
European
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 A
OR 0.23
p 4.0e-68
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 A
OR —
p 2.0e-58
N 133,492
Large GWAS
European
Han X et al. “Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort: A Mendelian Randomization Study.” Jama Ophthalmology 138(6):671-678 (2020)
Allele A
OR 0.22
p 2.0e-46
N 101,939
Major Consortium StudyLarge GWAS
European
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 A
OR 0.18
p 1.0e-11
N 35,296
Large GWAS
multi-ancestry
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 A
OR 0.20
p 1.0e-12
N 29,578
Large GWAS
multi-ancestry

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 A
OR 0.15
p 9.0e-29
N 315,668
Major Consortium StudyLarge GWAS
European

corneal resistance factor

He W et al. “Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging.” Jama Ophthalmology 140(6):568-576 (2022)
Allele A
OR 0.04
p 6.0e-25
N 123,734
Major Consortium StudyLarge GWAS
European
Jiang X et al. “Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants.” Communications Biology 3(1):762 (2020)
Allele A
OR 0.08
p 8.0e-18
N 76,029
Large GWAS
European

Antiglaucoma preparations and miotics use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.13
p 9.0e-21
N 279,594
Large GWAS
multi-ancestry
Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele G
OR 0.17
p 1.0e-16
N 100,868
Major Consortium StudyLarge GWAS
European

glaucoma

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.12
p 3.0e-25
N 662,330
Large GWAS
multi-ancestry
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 A
OR 0.08
p 1.0e-41
N 609,053
Major Consortium StudyLarge GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.17
p 3.0e-16
N 394,626
Large GWAS
European
MacGregor S et al. “Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.” Nature Genetics 50(8):1067-1071 (2018)
Allele A
OR 1.17
p 2.0e-21
N 137,086
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 A
OR 1.16
p 7.0e-18
N 127,265
Large GWAS
European

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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