Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922448
rs193922448
CYBB
C 0.700 CausalMutation CLINVAR Exon skipping in CYBB mRNA and skewed inactivation of X chromosome cause late-onset chronic granulomatous disease. 30633606

2019
dbSNP: rs193922448
rs193922448
CYBB
C 0.700 CausalMutation CLINVAR Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005-2015): New Studies and a Literature Review. 28251166

2017
dbSNP: rs193922448
rs193922448
CYBB
C 0.700 CausalMutation CLINVAR Hematologically important mutations: X-linked chronic granulomatous disease (third update). 20729109

2010