Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1049254
rs1049254
CYBA
0.010 GeneticVariation BEFREE The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD. 29132304

2017
dbSNP: rs1049255
rs1049255
CYBA
0.010 GeneticVariation BEFREE The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD. 29132304

2017
dbSNP: rs4673
rs4673
CYBA
0.010 GeneticVariation BEFREE The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD. 29132304

2017
dbSNP: rs782047455
rs782047455
CYBB
0.010 GeneticVariation BEFREE A novel SRY missense mutation c.347T>C (p.Leu116Ser) was identified in two half-sisters and segregates with the CGD phenotype. 21868002

2011