rs2093210

This variant is located in the C14orf39 gene.

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GWAS Catalog Trait Associations (7)

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

low tension glaucoma

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 T
OR 0.73
p 1.0e-24
N 51,244
Meta-analysisLarge GWAS
multi-ancestry

glaucoma

MacGregor S et al. “Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.” Nature Genetics 50(8):1067-1071 (2018)
Allele T
OR 1.16
p 6.0e-22
N 137,086
Large GWAS
European
Xue Z et al. “Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank.” Ebiomedicine 82:104161 (2022)
Allele T
OR 0.11
p 3.0e-10
N 68,390
Meta-analysisMajor Consortium StudyLarge GWAS
European

body weight

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 0.03
p 3.0e-19
N 609,198
Major Consortium StudyLarge GWAS
multi-ancestry

Hypermetropia

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 0.05
p 3.0e-16
N 560,675
Major Consortium StudyLarge GWAS
multi-ancestry

mathematical ability

Lee JJ et al. “Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.” Nature Genetics 50(8):1112-1121 (2018)
Allele T
OR 0.01
p 5.0e-15
N 811,539
Large GWAS
European

body height

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele C
OR 0.03
p 7.0e-101
N 928,679
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 C
OR 0.05
p 2.0e-32
N 607,510
Major Consortium StudyLarge GWAS
multi-ancestry
Wood AR et al. “Defining the role of common variation in the genomic and biological architecture of adult human height.” Nature Genetics 46(11):1173-86 (2014)
Allele C
OR 0.04
p 3.0e-35
N 253,288
Large GWAS
European
Lango Allen H et al. “Hundreds of variants clustered in genomic loci and biological pathways affect human height.” Nature 467(7317):832-8 (2010)
Allele C
OR —
β 0.032
p 6.0e-17
N 133,653
Large GWAS
European
Chiou JS et al. “Your height affects your health: genetic determinants and health-related outcomes in Taiwan.” Bmc Medicine 20(1):250 (2022)
Allele C
OR 0.04
p 3.0e-12
N 67,452
Large GWAS
East Asian
Fernández-Rhodes L et al. “Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium.” Hgg Advances 3(2):100099 (2022)
Allele C
OR 0.04
p 5.0e-9
N 59,771
Major Consortium StudyLarge GWAS
Hispanic or Latin American
Berndt SI et al. “Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.” Nature Genetics 45(5):501-12 (2013)
Allele C
OR 1.16
p 8.0e-13
N 16,196
Meta-analysisLarge GWAS
European

open-angle glaucoma

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 T
OR 0.82
p 5.0e-14
N 53,141
Meta-analysisLarge GWAS
multi-ancestry

About C14orf39

Involved in homologous chromosome pairing at meiosis. Predicted to be located in chromosome. Predicted to be active in central element. Implicated in primary ovarian insufficiency 18 and spermatogenic failure 52. [provided by Alliance of Genome Resources, Jul 2025]

View all C14orf39 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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