rs16933084

This is a regulatory region variant variant in the C1S gene.

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GWAS Catalog Trait Associations (5)

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

blood protein amount

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele A
OR 0.93
p 2.0e-144
N 3,200
Large GWAS
European

segment polarity protein dishevelled homolog DVL-2 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.610
p 1.0e-69
N 3,301
Large GWAS
European

complement C1q 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 T
OR 0.64
p 1.0e-41
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

level of catechol O-methyltransferase in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele T
OR 0.91
p 1.0e-21
N 466
Small GWAS
African American or Afro-Caribbean

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]

View all C1S variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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