Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356703
rs80356703
CLCN1
A 0.800 CausalMutation CLINVAR Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature. 27415035

2017
dbSNP: rs80356703
rs80356703
CLCN1
A 0.800 CausalMutation CLINVAR A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. 23739125

2013
dbSNP: rs80356703
rs80356703
CLCN1
A 0.800 CausalMutation CLINVAR Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. 18337100

2009
dbSNP: rs80356703
rs80356703
CLCN1
A 0.800 CausalMutation CLINVAR Novel CLCN1 mutations with unique clinical and electrophysiological consequences. 12390967

2002
dbSNP: rs80356703
rs80356703
CLCN1
A 0.800 CausalMutation CLINVAR Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita. 10690989

2000
dbSNP: rs80356703
rs80356703
CLCN1
A 0.800 CausalMutation CLINVAR Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. 8857733

1996
dbSNP: rs80356703
rs80356703
CLCN1
A 0.800 CausalMutation CLINVAR Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. 7874130

1994
dbSNP: rs80356703
rs80356703
CLCN1
0.800 GeneticVariation UNIPROT