DisGeNET - a database of gene-disease associations

Summary of VDAs
Evidences for VDAs

rs1447069098, CYP11B1;GML

N. diseases: 3

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.

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency

CUI:	C0268292
Disease:	Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency

0.882

0.240

142874997

missense variant

C/T

snv

4.0E-06

0.710

1.000

1991

2017

11-Beta-hydroxylase deficiency

CUI:	C3669121
Disease:	11-Beta-hydroxylase deficiency

0.882

0.240

142874997

missense variant

C/T

snv

4.0E-06

0.010

1.000

2017

Chronic active hepatitis

CUI:	C0520463
Disease:	Chronic active hepatitis

0.882

0.240

142874997

missense variant

C/T

snv

4.0E-06

0.010

1.000

2009