Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1373863123
rs1373863123
ACTB
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.010 GeneticVariation BEFREE To unravel the potential mechanisms involved, we dissected lower limb and diaphragm muscles from a knock-in mouse model of severe nemaline myopathy expressing the ACTA1 His40Tyr actin mutation found in human patients. 23656990

2013