rs7210574

This variant is located in the UNC13D gene.

▶

GWAS Catalog Trait Associations (3)

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

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 C
OR 0.01
p 2.0e-20
N 180,094
Large GWAS
European

HbA1c measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.01
p 2.0e-11
N 394,642
Large GWAS
European

hemoglobin A1 measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.01
p 3.0e-10
N 415,403
Large GWAS
multi-ancestry
▶

ClinVar annotation

Benign★★★☆
13 submitters3 publications

not specified; Familial hemophagocytic lymphohistiocytosis 3; not provided

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic‐onset juvenile idiopathic arthritis
AssociationN=3,517Rachelle Donn et al.(2008)· Arthritis &amp; Rheumatism

This case-control association study investigated whether SNPs in genes involved in hemophagocytic lymphohistiocytosis (PRF1, GZMB, UNC13D, Rab27a) confer susceptibility to systemic-onset juvenile idiopathic arthritis. Testing 27 SNPs across these 4 genes in 133 UK Caucasian patients and 384 controls (expanded with ~3,000 additional WTCCC controls), the study found no significant associations between any SNP and systemic-onset JIA, either by single-point or haplotype analysis, concluding these genes do not contribute substantial risk to the disease.

Traits studied:Hemophagocytic lymphohistiocytosisMacrophage activation syndromeSystemic-onset juvenile idiopathic arthritis
PubMedDOIMetascience Observatory

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…