rs139531404

This variant is located in the C1R gene.

▶

GWAS Catalog Trait Associations (2)

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

complement C1r subcomponent measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.44

p 7.0e-28

N 47,745

Large GWAS

European

diacylglycerol kinase beta measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)

Allele G

OR —

β 1.540

p 1.0e-18

N 3,301

Large GWAS

European

▶

ClinVar annotation

Conflicting Classifications

5 submitters2 publications

Ehlers-Danlos syndrome, periodontal type 1; not provided; Vascular dementia; not specified

View on ClinVar →

About C1R

This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]