DisGeNET - a database of gene-disease associations

Dmd-Associated Dilated Cardiomyopathy, C3668940

Variant: rs773643220 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs773643220

DMD

0.700

CausalMutation

CLINVAR

Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.

27593222

2017

dbSNP:

rs773643220

DMD

0.700

CausalMutation

CLINVAR

A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy.

16834926

2006

dbSNP:

rs773643220

DMD

0.700

CausalMutation

CLINVAR

Large majority of single-nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis.

9195228

1997