rs11064498
This variant is located in the C1S gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
ER membrane protein complex subunit 1 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 0.21
p 9.0e-29
N 10,708
Large GWAS
European
serpin A9 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 0.15
p 1.0e-15
N 10,708
Large GWAS
European
Allele A
OR —
β 0.260
p 1.0e-13
N 3,301
Large GWAS
European
protein 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 0.17
p 5.0e-22
N 10,708
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout 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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