DisGeNET - a database of gene-disease associations

Deficiency of steroid 21-monooxygenase, C0268287

Variant: rs72552758 ×

Source: ALL

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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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs72552758

rs72552758

CYP21A2 ; TNXB

0.010

GeneticVariation

BEFREE

A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency.

1999