rs696763
This variant is located in the C9 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.
complement component C9 measurement
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 A
OR 1.44
p 2.0e-22
N 466
Small GWAS
African American or Afro-Caribbean
level of CREB-binding protein 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 A
OR 1.50
p 6.0e-22
N 466
Small GWAS
African American or Afro-Caribbean
level of ADP-ribosylation factor-like protein 5B 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 A
OR 1.31
p 3.0e-18
N 466
Small GWAS
African American or Afro-Caribbean
▶ClinVar annotation
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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