Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149729531
rs149729531
CLCN1
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen 		G 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs149729531
rs149729531
CLCN1
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen 		G 0.700 CausalMutation CLINVAR Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes. 23933576

2013
dbSNP: rs149729531
rs149729531
CLCN1
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen 		G 0.700 CausalMutation CLINVAR Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient. 24304580

2013
dbSNP: rs149729531
rs149729531
CLCN1
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen 		G 0.700 CausalMutation CLINVAR Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2. 22407275

2012
dbSNP: rs149729531
rs149729531
CLCN1
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen 		G 0.700 CausalMutation CLINVAR Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita. 10690989

2000
dbSNP: rs149729531
rs149729531
CLCN1
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen 		G 0.700 CausalMutation CLINVAR Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. 7874130

1994