Annotation Detail

Information
Associated Genes
C3
Associated Variants
C3 p.Pro314Leu (p.P314L) ( ENST00000245907.11 )
C3 p.Pro314Leu (p.P314L) ( ENST00000245907.11 )
Associated Disease
Meningitis, Bacterial
Source Database
DisGeNET
Description
Rs1047286 (Pro314Leu) in complement component 3 was associated with reduced susceptibility to bacterial meningitis after correction for multiple testing: the protective Leu/Leu genotype was found in 5 of 435 patients (1%) compared to 15 of 302 controls (5%; odds ratio [OR] 4.50, 95% confidence interval [CI] 1.62-12.50, p = 0.0017).
Pubmed
23068452
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2013
Drugs