Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894515
rs104894515
CYBA
T 0.710 CausalMutation CLINVAR Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). 20167518

2010
dbSNP: rs104894515
rs104894515
CYBA
0.710 GeneticVariation BEFREE Binding of the p47-phox SH3 domains to p22-phox was abolished by a mutation in one proline-rich sequence (Pro156-->Gln) noted in a distinct form of chronic granulomatous disease and was inhibited by a short proline-rich synthetic peptide corresponding to residues 149-162 of p22-phox. 7938008

1994