rs17256786

This variant is located in the COL7A1 gene.

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GWAS Catalog Trait Associations (1)

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

thioredoxin domain-containing protein 12 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele G
OR 0.77
p 5.0e-17
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
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ClinVar annotation

Benign★★★☆
5 submitters2 publications

not specified; not provided

View on ClinVar →

About COL7A1

This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]

View all COL7A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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