rs138453906

This is a intron variant variant in the C9 gene.

GWAS Catalog Trait Associations (1)

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

oncostatin-M-specific receptor subunit beta measurement

Allele T
OR 0.31
p 2.0e-20
N 47,745
Large GWAS
European

About C9

This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]

View all C9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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