rs11672517

This is a intron variant variant in the DUXA gene.

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GWAS Catalog Trait Associations (1)

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

Dupuytren Contracture

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.26
p 1.0e-41
N 628,518
Major Consortium StudyLarge GWAS
multi-ancestry
Ng M et al. “A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis.” American Journal of Human Genetics 101(3):417-427 (2017)
Allele G
OR 1.34
p 2.0e-17
N 8,557
Large GWAS
multi-ancestry
Dolmans GH et al. “Wnt signaling and Dupuytren's disease.” The New England Journal of Medicine 365(4):307-17 (2011)
Allele G
OR 1.34
p 7.0e-14
N 3,692
Large GWAS
European

About DUXA

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DUXA homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq, Jul 2008]

View all DUXA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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