rs1192415

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (9)

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

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 G
OR 0.13
p 1.0e-69
N 434,033
Major Consortium StudyLarge GWAS
European
Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele G
OR 0.07
p 7.0e-9
N 1,487,447
Meta-analysisLarge GWAS
multi-ancestry
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 G
OR 0.12
p 6.0e-31
N 432,017
Large 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 G
OR 0.10
p 1.0e-29
N 383,500
Meta-analysisLarge GWAS
multi-ancestry
Li Z et al. “A common variant near TGFBR3 is associated with primary open angle glaucoma.” Human Molecular Genetics 24(13):3880-92 (2015)
Allele G
OR 1.13
p 2.0e-8
N 13,250
Large GWAS
multi-ancestry

optic disc area

Bonnemaijer PWM et al. “Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.” Communications Biology 2:435 (2019)
Allele G
OR 0.08
p 4.0e-64
N 24,509
Large GWAS
European

optic disc size trait

Ramdas WD et al. “A genome-wide association study of optic disc parameters.” Plos Genetics 6(6):e1000978 (2010)
Allele G
OR 0.06
p 3.0e-28
N 7,360
Large GWAS
European
Khor CC et al. “Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.” Human Molecular Genetics 20(9):1864-72 (2011)
Allele G
OR —
β 0.096
p 8.0e-17
N 4,445
Large GWAS
multi-ancestry

vital capacity

He Y et al. “Multi-trait and multi-ancestry genetic analysis of comorbid lung diseases and traits improves genetic discovery and polygenic risk prediction.” Nature Genetics 58(2):289-298 (2026)
Allele G
OR 0.03
p 2.0e-14
N 129,680
Large GWAS
East Asian
Shrine N et al. “New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.” Nature Genetics 51(3):481-493 (2019)
Allele G
OR 0.02
p 1.0e-10
N 321,047
Large GWAS
European

cup-to-disc ratio measurement

Alipanahi B et al. “Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology.” American Journal of Human Genetics 108(7):1217-1230 (2021)
Allele G
OR 0.02
p 8.0e-102
N 65,680
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 G
OR 0.11
p 1.0e-21
N 114,920
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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