rs11870883

This variant is located in the UNC13D gene.

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GWAS Catalog Trait Associations (1)

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

serine/threonine-protein kinase PAK 6 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 0.18

p 4.0e-33

N 10,708

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

not specified

View on ClinVar →

About UNC13D

This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]

View all UNC13D variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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