DisGeNET - a database of gene-disease associations

Congenital Fiber Type Disproportion, C0546264

Variant: rs121909530 ×

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:

rs121909530

rs121909530

ACTA1

0.800

GeneticVariation

UNIPROT

The pathogenesis of ACTA1-related congenital fiber type disproportion.

2007

dbSNP:

rs121909530

rs121909530

ACTA1

0.800

GeneticVariation

UNIPROT

Actin mutations are one cause of congenital fibre type disproportion.

2004

dbSNP:

rs121909530

rs121909530

ACTA1

G

0.800

CausalMutation

CLINVAR