rs7916697
This is a regulatory region variant variant in the ATOH7 gene.
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
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 A
OR 0.11
p 7.0e-61
N 612,895
Major Consortium StudyLarge GWAS
multi-ancestry
optic disc size trait
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 A
OR —
β 0.094
p 2.0e-15
N 4,445
Large GWAS
multi-ancestry
photoreceptor cell layer thickness measurement
Currant H et al. “Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.” Plos Genetics 19(2):e1010587 (2023)
Allele G
OR 0.43
p 4.0e-13
N 31,135
Large GWAS
European
optic cup 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 A
OR 0.02
p 9.0e-13
N 24,493
Large GWAS
European
optic disc quality
Veluchamy A et al. “Novel Genetic Locus Influencing Retinal Venular Tortuosity Is Also Associated With Risk of Coronary Artery Disease.” Arteriosclerosis, Thrombosis, and Vascular Biology 39(12):2542-2552 (2019)
Allele G
OR 3.48
p 2.0e-10
N 3,094
Large GWAS
European
BMI-adjusted hip circumference
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.02
p 5.0e-8
N 219,872
Major Consortium StudyLarge GWAS
European
cup-to-disc ratio measurement
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 0.01
p 7.0e-35
N 67,040
Large GWAS
European
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 A
OR 0.02
p 1.0e-98
N 65,680
Large GWAS
European
smoking initiation
Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele G
OR 0.01
p 8.0e-13
N 2,669,029
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout ATOH7
This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011]
View all ATOH7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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