Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146187042
rs146187042
C8B
A 0.700 CausalMutation CLINVAR A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis. 19434484

2009
dbSNP: rs146187042
rs146187042
C8B
A 0.700 CausalMutation CLINVAR [Further study on heterogeneic basis of complement C8 beta deficiency]. 14767900

2004
dbSNP: rs146187042
rs146187042
C8B
A 0.700 CausalMutation CLINVAR Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis. 7594510

1995