rs11827437

This variant is located in the DCHS1 gene.

GWAS Catalog Trait Associations (2)

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

level of tripeptidyl-peptidase 1 in blood

Allele C
OR 0.13
p 2.0e-109
N 47,745
Large GWAS
European

protein measurement

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.13
p 2.0e-22
N 10,708
Large GWAS
European

ClinVar annotation

Benign★★★
7 submitters2 publications

not specified; not provided; Van Maldergem syndrome 1

View on ClinVar →

About DCHS1

This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq, Jul 2008]

View all DCHS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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