rs62292950

This variant is located in the DNAJC13 gene.

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GWAS Catalog Trait Associations (4)

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

Red cell distribution width

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.04
p 4.0e-40
N 531,774
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.04
p 1.0e-33
N 408,112
Large GWAS
European

aspartate aminotransferase measurement

Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)
Allele T
OR 7.28
p 3.0e-13
N 389,565
Large GWAS
multi-ancestry

C-C motif chemokine 19 level

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.14
p 8.0e-13
N 10,708
Large GWAS
European

sex hormone-binding globulin measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele T
OR 0.01
p 2.0e-8
N 368,929
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

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]

View all DNAJC13 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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