rs16933078

This variant is located in the C1S gene.

▶

GWAS Catalog Trait Associations (2)

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

complement C1r subcomponent measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)

Allele A

OR 0.65

p 5.0e-43

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

adseverin measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele A

OR 0.20

p 6.0e-23

N 10,708

Large GWAS

European

▶

ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

About C1S

This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]