rs2067542

This is a intron variant variant in the C6 gene.

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GWAS Catalog Trait Associations (1)

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

complement component C7 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)

Allele G

OR 0.30

p 9.0e-14

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

About C6

This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]

View all C6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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