Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748639603
rs748639603
CLCN1
G 0.800 GeneticVariation CLINVAR Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations. 26502825

2015
dbSNP: rs748639603
rs748639603
CLCN1
G 0.800 GeneticVariation CLINVAR Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. 22094069

2012
dbSNP: rs748639603
rs748639603
CLCN1
0.800 GeneticVariation UNIPROT