rs104894515, CYBA

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, Autosomal Recessive, Cytochrome B-Negative
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
15 1.000 0.120 16 88643474 missense variant G/T snv 0.800 1.000 10 1990 2013
Chronic granulomatous disease
CUI: C0018203
Disease: Chronic granulomatous disease
23 1.000 0.120 16 88643474 missense variant G/T snv 0.710 1.000 2 1994 2010