rs186572062

This is a downstream gene variant variant in the C1S gene.

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GWAS Catalog Trait Associations (2)

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

level of retinol-binding protein 5 in blood serum

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 0.39

p 4.0e-26

N 47,745

Large GWAS

European

calsyntenin-3 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 0.29

p 6.0e-14

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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