Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041805
rs886041805
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs80338959
rs80338959
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs527236148
rs527236148
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs80338792
rs80338792
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		A 0.700 CausalMutation CLINVAR Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. 1310898

1992
dbSNP: rs121908547
rs121908547
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		A 0.700 CausalMutation CLINVAR Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. 1310898

1992
dbSNP: rs121908545
rs121908545
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		G 0.700 CausalMutation CLINVAR Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. 1316765

1992
dbSNP: rs121908545
rs121908545
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		T 0.700 CausalMutation CLINVAR Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. 1316765

1992
dbSNP: rs121908544
rs121908544
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		A 0.700 CausalMutation CLINVAR Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. 1316765

1992
dbSNP: rs80338958
rs80338958
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		T 0.800 CausalMutation CLINVAR Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. 1338909

1992
dbSNP: rs80338962
rs80338962
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		C 0.820 CausalMutation CLINVAR A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. 1659668

1991
dbSNP: rs80338957
rs80338957
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		A 0.850 CausalMutation CLINVAR Identification of a mutation in the gene causing hyperkalemic periodic paralysis. 1659948

1991
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		G 0.710 CausalMutation CLINVAR Detection of high-risk groups and individuals for periodontal diseases. 2649440

1989
dbSNP: rs80338792
rs80338792
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		A 0.700 CausalMutation CLINVAR Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. 7473241

1995
dbSNP: rs80338792
rs80338792
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		T 0.700 CausalMutation CLINVAR Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. 7473241

1995
dbSNP: rs80338792
rs80338792
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		G 0.700 CausalMutation CLINVAR Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. 7473241

1995
dbSNP: rs121908545
rs121908545
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		G 0.700 CausalMutation CLINVAR In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4. 7676326

1995
dbSNP: rs80338957
rs80338957
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		A 0.850 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. 7809121

1994
dbSNP: rs121908547
rs121908547
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		A 0.700 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. 7809121

1994
dbSNP: rs121908545
rs121908545
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		T 0.700 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. 7809121

1994
dbSNP: rs121908545
rs121908545
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		G 0.700 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. 7809121

1994
dbSNP: rs121908544
rs121908544
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		A 0.700 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. 7809121

1994
dbSNP: rs80338792
rs80338792
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		G 0.700 CausalMutation CLINVAR Myotonia fluctuans. A third type of muscle sodium channel disease. 7980103

1994
dbSNP: rs80338792
rs80338792
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		A 0.700 CausalMutation CLINVAR Myotonia fluctuans. A third type of muscle sodium channel disease. 7980103

1994
dbSNP: rs80338792
rs80338792
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		T 0.700 CausalMutation CLINVAR Myotonia fluctuans. A third type of muscle sodium channel disease. 7980103

1994
dbSNP: rs121908545
rs121908545
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		G 0.700 CausalMutation CLINVAR Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families. 8005599

1994