rs116570955

This is a intron variant variant in the DNAJB11 gene.

GWAS Catalog Trait Associations (1)

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

alpha-2-HS-glycoprotein measurement

Allele C
OR 0.29
p 3.0e-34
N 47,745
Large GWAS
European

About DNAJB11

This gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) lumen that functions as a co-chaperone of binding immunoglobulin protein, a 70 kilodalton heat shock protein chaperone required for the proper folding and assembly of proteins in the ER. The encoded protein contains a highly conserved J domain of about 70 amino acids with a characteristic His-Pro-Asp (HPD) motif and may regulate the activity of binding immunoglobulin protein by stimulating ATPase activity. [provided by RefSeq, Mar 2014]

View all DNAJB11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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