DisGeNET - a database of gene-disease associations

Muscular Dystrophy, Duchenne, C0013264

Variant: rs112735431 ×

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:

rs112735431

rs112735431

RNF213 ; RNF213-AS1

0.010

GeneticVariation

BEFREE

Three female family members carried the same disease-causing mutations, c.9953_9954delAG of DMD and c.14429G>A of RNF213.

2019