DisGeNET - a database of gene-disease associations

rs193922446, CYBB

N. diseases: 1

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

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

37780092

frameshift variant

T/-

del

0.700