rs1049254, CYBA

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 16 88643420 missense variant A/C;G snv 8.0E-06; 0.65 0.010 1.000 1 2017 2017
Granulomatous Disease, Chronic, X-Linked
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
75 0.925 0.160 16 88643420 missense variant A/C;G snv 8.0E-06; 0.65 0.010 1.000 1 2017 2017
Peroxisome Biogenesis Disorder, Complementation Group D
CUI: C1863999
Disease: Peroxisome Biogenesis Disorder, Complementation Group D
4 0.925 0.160 16 88643420 missense variant A/C;G snv 8.0E-06; 0.65 0.010 1.000 1 2017 2017