rs334353

This is a upstream gene variant variant in the TGFBR1 gene.

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GWAS Catalog Trait Associations (1)

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

age-related macular degeneration

Fritsche LG et al. “Seven new loci associated with age-related macular degeneration.” Nature Genetics 45(4):433-9, 439e1-2 (2013)

Allele T

OR 1.13

p 3.0e-11

N 59,494

Large GWAS

multi-ancestry

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ClinVar annotation

not_provided

1 submitter

View on ClinVar →

About TGFBR1

The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

View all TGFBR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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