rs575826837

This variant is located in the DYM gene.

GWAS Catalog Trait Associations (3)

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

high density lipoprotein cholesterol measurement

Allele A
OR 0.04
p 5.0e-11
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified

total cholesterol measurement

Allele A
OR 0.05
p 5.0e-9
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified

triglyceride measurement

Allele A
OR 0.04
p 2.0e-8
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified

About DYM

This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia. [provided by RefSeq, Jun 2017]

View all DYM variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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