Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356697
rs80356697
CLCN1
0.710 GeneticVariation UNIPROT A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes. 27653901

2016
dbSNP: rs80356697
rs80356697
CLCN1
0.710 GeneticVariation UNIPROT Thomsen disease with ptosis and abnormal MR findings. 27666773

2016
dbSNP: rs80356697
rs80356697
CLCN1
0.710 GeneticVariation UNIPROT ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation. 26096614

2015
dbSNP: rs80356697
rs80356697
CLCN1
0.710 GeneticVariation BEFREE A parallel was drawn between this unprecedented situation and that of myotonia congenita by including patients homozygous or heterozygous for the CLCN1 I556N channel mutation, which is known for incomplete dominance and penetrance. 19882638

2010
dbSNP: rs80356697
rs80356697
CLCN1
0.710 GeneticVariation UNIPROT Decrement of compound muscle action potential is related to mutation type in myotonia congenita. 12661046

2003
dbSNP: rs80356697
rs80356697
CLCN1
0.710 GeneticVariation UNIPROT Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. 9566422

1998
dbSNP: rs80356697
rs80356697
CLCN1
0.710 GeneticVariation UNIPROT ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. 9736777

1998
dbSNP: rs80356697
rs80356697
CLCN1
0.710 GeneticVariation UNIPROT A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. 9122265

1997
dbSNP: rs80356697
rs80356697
CLCN1
0.710 GeneticVariation UNIPROT Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. 8845168

1995
dbSNP: rs80356697
rs80356697
CLCN1
0.710 GeneticVariation UNIPROT Myotonia levior is a chloride channel disorder. 7581380

1995
dbSNP: rs80356697
rs80356697
CLCN1
0.710 GeneticVariation UNIPROT Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. 8533761

1995
dbSNP: rs80356697
rs80356697
CLCN1
0.710 GeneticVariation UNIPROT Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). 8112288

1994
dbSNP: rs80356697
rs80356697
CLCN1
0.710 GeneticVariation UNIPROT Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). 7981750

1993