Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553255354
rs1553255354
ACTA1
G 0.700 CausalMutation CLINVAR Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. 16967490

2007
dbSNP: rs1553255354
rs1553255354
ACTA1
G 0.700 CausalMutation CLINVAR Clinical course correlates poorly with muscle pathology in nemaline myopathy. 12601110

2003
dbSNP: rs1553255354
rs1553255354
ACTA1
G 0.700 CausalMutation CLINVAR Actin mutations are one cause of congenital fibre type disproportion. 15468086

2004
dbSNP: rs1553255354
rs1553255354
ACTA1
G 0.700 CausalMutation CLINVAR Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 11333380

2001
dbSNP: rs1553255354
rs1553255354
ACTA1
G 0.700 CausalMutation CLINVAR Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 19562689

2009
dbSNP: rs1553255354
rs1553255354
ACTA1
G 0.700 CausalMutation CLINVAR Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 15236405

2004
dbSNP: rs1553255354
rs1553255354
ACTA1
G 0.700 CausalMutation CLINVAR Review of Cardiac Disease in Nemaline Myopathy. 26507755

2015
dbSNP: rs1553255354
rs1553255354
ACTA1
G 0.700 CausalMutation CLINVAR Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. 25890230

2015
dbSNP: rs1553255354
rs1553255354
ACTA1
G 0.700 CausalMutation CLINVAR Nemaline myopathy with dilated cardiomyopathy in childhood. 23650303

2013
dbSNP: rs1553255501
rs1553255501
ACTA1
C 0.700 GeneticVariation CLINVAR Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. 25890230

2015
dbSNP: rs1553255501
rs1553255501
ACTA1
C 0.700 GeneticVariation CLINVAR Actin mutations are one cause of congenital fibre type disproportion. 15468086

2004
dbSNP: rs1553255501
rs1553255501
ACTA1
C 0.700 GeneticVariation CLINVAR Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 15236405

2004
dbSNP: rs1553255501
rs1553255501
ACTA1
C 0.700 GeneticVariation CLINVAR Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. 16967490

2007
dbSNP: rs1553255501
rs1553255501
ACTA1
C 0.700 GeneticVariation CLINVAR Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 11333380

2001
dbSNP: rs1553255501
rs1553255501
ACTA1
C 0.700 GeneticVariation CLINVAR Clinical course correlates poorly with muscle pathology in nemaline myopathy. 12601110

2003
dbSNP: rs1553255501
rs1553255501
ACTA1
C 0.700 GeneticVariation CLINVAR Review of Cardiac Disease in Nemaline Myopathy. 26507755

2015
dbSNP: rs1553255501
rs1553255501
ACTA1
C 0.700 GeneticVariation CLINVAR Nemaline myopathy with dilated cardiomyopathy in childhood. 23650303

2013
dbSNP: rs1553255501
rs1553255501
ACTA1
C 0.700 GeneticVariation CLINVAR Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 19562689

2009
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. 22782511

2012
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR Structure, mechanism, and regulation of soluble adenylyl cyclases - similarities and differences to transmembrane adenylyl cyclases. 25193033

2014
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 24700542

2014
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase. 12223546

2002
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR Phenotypic insights into ADCY5-associated disease. 27061943

2016
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR Isolation and characterization of a novel cardiac adenylylcyclase cDNA. 1618857

1992
dbSNP: rs1553732126
rs1553732126
ADCY5
CG 0.700 GeneticVariation CLINVAR Cloning and expression of an adenylyl cyclase localized to the corpus striatum. 8429907

1993