DisGeNET - a database of gene-disease associations

Muscular Dystrophy, Duchenne, C0013264

Variant: rs398122853 ×

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:

rs398122853

DMD

0.700

CausalMutation

CLINVAR

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

27708273

2017

dbSNP:

rs398122853

DMD

0.700

CausalMutation

CLINVAR

DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

19206170

2009

dbSNP:

rs398122853

DMD

0.700

CausalMutation

CLINVAR

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.

19793655

2009