Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908561
rs121908561
SCN4A
0.700 GeneticVariation UNIPROT A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes. 27653901

2016
dbSNP: rs121908561
rs121908561
SCN4A
0.700 GeneticVariation UNIPROT New mutation of the Na channel in the severe form of potassium-aggravated myotonia. 19347921

2009
dbSNP: rs121908561
rs121908561
SCN4A
0.700 GeneticVariation UNIPROT Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. 18337100

2009
dbSNP: rs121908561
rs121908561
SCN4A
0.700 GeneticVariation UNIPROT Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. 20076800

2009
dbSNP: rs121908561
rs121908561
SCN4A
0.700 GeneticVariation UNIPROT Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. 18203179

2008
dbSNP: rs121908561
rs121908561
SCN4A
0.700 GeneticVariation UNIPROT A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia. 19015483

2008
dbSNP: rs121908561
rs121908561
SCN4A
0.700 GeneticVariation UNIPROT A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. 17998485

2007
dbSNP: rs121908561
rs121908561
SCN4A
0.700 GeneticVariation UNIPROT A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene. 17212350

2007
dbSNP: rs121908561
rs121908561
SCN4A
0.700 GeneticVariation UNIPROT Cold extends electromyography distinction between ion channel mutations causing myotonia. 16786525

2006
dbSNP: rs121908561
rs121908561
SCN4A
0.700 GeneticVariation UNIPROT Autosomal dominant monosymptomatic myotonia permanens. 16832098

2006
dbSNP: rs121908561
rs121908561
SCN4A
0.700 GeneticVariation UNIPROT Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia. 10218481

1999
dbSNP: rs121908561
rs121908561
SCN4A
0.700 GeneticVariation UNIPROT A novel muscle sodium channel mutation causes painful congenital myotonia. 9392583

1997
dbSNP: rs121908561
rs121908561
SCN4A
0.700 GeneticVariation UNIPROT Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. 8058156

1994