DisGeNET - a database of gene-disease associations

CYP21A2, cytochrome P450 family 21 subfamily A member 2, 1589

N. diseases: 166; N. variants: 222

Disease: COMPLEMENT FACTOR B DEFICIENCY ×

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

Variant

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs398123065

rs398123065

1.000

6

31947950

stop gained

C/A;T

snv

4.0E-06; 4.0E-06

CUI:	C3809950
Disease:	COMPLEMENT FACTOR B DEFICIENCY

COMPLEMENT FACTOR B DEFICIENCY

0.700

dbSNP:

rs398124644

rs398124644

1.000

6

31951180

frameshift variant

TTGT/-

delins

CUI:	C3809950
Disease:	COMPLEMENT FACTOR B DEFICIENCY

COMPLEMENT FACTOR B DEFICIENCY

0.700