rs12032649
This is a downstream gene variant variant.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Corneal astigmatism
Shah RL et al. “Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.” Human Genetics 137(11-12):881-896 (2018)
Allele T
OR 0.02
p 5.0e-14
N 86,335
Major Consortium StudyLarge GWAS
European
Myopia
Meguro A et al. “Genome-Wide Association Study in Asians Identifies Novel Loci for High Myopia and Highlights a Nervous System Role in Its Pathogenesis.” Ophthalmology 127(12):1612-1624 (2020)
Allele G
OR 1.29
p 2.0e-11
N 3,218
Large GWAS
multi-ancestry
Umbilical hernia
Wei J et al. “Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank.” Hernia : the Journal of Hernias and Abdominal Wall Surgery 26(1):335-348 (2022)
Allele T
OR 1.15
p 3.0e-9
N 275,546
Major Consortium StudyLarge GWAS
European
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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