rs12068500
This is a intron variant variant in the COL24A1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
intraocular pressure 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 G
OR —
p 6.0e-14
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 G
OR 0.14
p 9.0e-9
N 101,939
Major Consortium StudyLarge GWAS
European
About COL24A1
This gene is a member of the collagen gene family and is thought to regulate type I collagen fibrillogenesis during fetal development. [provided by RefSeq, Mar 2017]
View all COL24A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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