rs113408797

This is a intron variant variant in the DNAJC13 gene.

GWAS Catalog Trait Associations (2)

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

mean corpuscular hemoglobin concentration

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 A
OR 0.08
p 6.0e-54
N 407,342
Major Consortium StudyLarge GWAS
European

erythrocyte volume

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 A
OR 0.05
p 7.0e-14
N 583,965
Major Consortium StudyLarge GWAS
multi-ancestry

About DNAJC13

This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson's disease. [provided by RefSeq, Jun 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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