DisGeNET - a database of gene-disease associations

Myopathies, Nemaline, C0206157

Variant: rs1273559032 ×

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:

rs1273559032

rs1273559032

ACTA1

0.010

GeneticVariation

BEFREE

Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy.

2004