rs10849546
This is a regulatory region variant variant in the C1S gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
protein measurement
Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)
Allele A
OR 0.69
p 5.0e-91
N 3,506
Large GWAS
European
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.31
p 5.0e-57
N 10,708
Large GWAS
European
complement C1r subcomponent measurement
Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele A
OR 0.45
p 7.0e-55
N 5,362
Large GWAS
European
prolyl 4-hydroxylase subunit alpha-2 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 0.27
p 2.0e-42
N 10,708
Large GWAS
European
sulfhydryl oxidase 1 measurement
Allele A
OR —
β 0.310
p 3.0e-18
N 3,301
Large GWAS
European
BH3-interacting domain death agonist measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.06
p 2.0e-12
N 47,745
Large GWAS
European
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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