DisGeNET - a database of gene-disease associations

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency, C2936858

Variant: rs781074931 ×

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

Gene

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs781074931

rs781074931

CYP21A2

1

1.000

0.200

6

32040574

missense variant

C/A;T

snv

4.1E-06; 6.1E-05

0.700

1.000

1985

2016