rs193922448, CYBB

N. diseases: 2
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.
Granulomatous Disease, Chronic, X-Linked
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
75 1.000 0.120 X 37793716 missense variant G/C snv 0.700 1.000 3 2010 2019
Chronic granulomatous disease
CUI: C0018203
Disease: Chronic granulomatous disease
23 1.000 0.120 X 37793716 missense variant G/C snv 0.010 1.000 1 2019 2019