rs12699251
This is a intron variant variant in the THSD7A gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
open-angle glaucoma
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 A
OR 0.07
p 7.0e-16
N 379,422
Large GWAS
European
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 A
OR —
β 0.051
p 5.0e-12
N 383,500
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 A
OR 1.11
p 4.0e-12
N 137,086
Large GWAS
European
About THSD7A
The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]
View all THSD7A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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