ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Myopathies, Nemaline ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515470
rs397515470
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0206157
Disease:
Myopathies, Nemaline 		0.010 GeneticVariation BEFREE The nemaline myopathy-causing E117K mutation in β-tropomyosin reduces thin filament activation. 23689010 2013