rs119103274, NCF2;SMG7

N. diseases: 2
Disease: Chronic granulomatous disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Chronic granulomatous disease
CUI: C0018203
Disease: Chronic granulomatous disease
0.010 GeneticVariation BEFREE Surprisingly, the A128V CGD mutant is able to fully activate the NADPH oxidase in vitro at 25 degrees C. However, this point mutation represents a temperature-sensitive defect in p67(phox) that explains its phenotype at physiological temperature. 11262407 2001