rs652785

This is a variant in the C8A gene that changes a glutamine to an lysine.

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ClinVar annotation

Benign★★★☆
8 submitters4 publications

COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM; Type I complement component 8 deficiency; not specified

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Research that mentions this SNP (1)

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Genetic modifiers of the severity of sickle cell anemia identified through a genome‐wide association study
AssociationN=1,428Paola Sebastiani et al.(2010)· American Journal of Hematology

Genome-wide association study identifying genetic modifiers of sickle cell anemia severity in 1,265 patients from the Cooperative Study of Sickle Cell Disease. Study discovered 40 SNPs strongly associated with disease severity (odds >1,000) through single SNP analysis, with 5 replicated in an independent validation set of 163 patients. Novel SNP set enrichment analysis (SSEA) identified 27 genes enriched for significant SNPs (P < 10−6), including KCNK6 (potassium channel), TNKS (telomere regulator), and C8A (complement component 8, including functional variant rs652785 with odds ratio 3.2 for severe disease).

Traits studied:Sickle cell anemia severity
PubMedDOIMetascience Observatory

About C8A

C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 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 complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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