Variant: rs146187042 

    present in Gene: C8B
    present in Chromosome: 1
    Position on Chromosome: 56956889
    Alleles of this Variant: G/A

rs146187042 in C8B gene and Complement Component 6 Deficiency PMID 19434484 2009 A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis.

PMID 14767900 2004 [Further study on heterogeneic basis of complement C8 beta deficiency].

PMID 7594510 1995 Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis.