rs142836385

This variant is located in the C6 gene.

GWAS Catalog Trait Associations (1)

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

complement component C7 measurement

Allele T
OR 0.38
p 2.0e-15
N 47,745
Large GWAS
European

ClinVar annotation

Likely Benign★★★
6 submitters2 publications

not provided; C6-related disorder

View on ClinVar →

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…