rs137854596, 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 37803890 missense variant C/G snv 0.800 1.000 20 1989 2016
Chronic granulomatous disease
CUI: C0018203
Disease: Chronic granulomatous disease
23 1.000 0.120 X 37803890 missense variant C/G snv 0.010 1.000 1 2004 2004