rs782047455, CYBB

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Chronic granulomatous disease
CUI: C0018203
Disease: Chronic granulomatous disease
23 0.925 0.160 X 37793674 missense variant C/T snv 5.5E-06 0.010 1.000 1 2011 2011
Granulomatous Disease, Chronic, X-Linked
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
75 0.925 0.160 X 37793674 missense variant C/T snv 5.5E-06 0.010 1.000 1 2011 2011
Peroxisome Biogenesis Disorder, Complementation Group D
CUI: C1863999
Disease: Peroxisome Biogenesis Disorder, Complementation Group D
4 0.925 0.160 X 37793674 missense variant C/T snv 5.5E-06 0.010 1.000 1 2011 2011