Gene: SCN4A ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs527236148
rs527236148
SCN4A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs80338959
rs80338959
SCN4A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs886041805
rs886041805
SCN4A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
G 0.710 CausalMutation CLINVAR Detection of high-risk groups and individuals for periodontal diseases. 2649440

1989
dbSNP: rs80338957
rs80338957
SCN4A
A 0.850 CausalMutation CLINVAR Identification of a mutation in the gene causing hyperkalemic periodic paralysis. 1659948

1991
dbSNP: rs80338962
rs80338962
SCN4A
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: rs80338958
rs80338958
SCN4A
T 0.800 CausalMutation CLINVAR Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. 1338909

1992
dbSNP: rs121908544
rs121908544
SCN4A
A 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
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
T 0.700 CausalMutation CLINVAR Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. 1316765

1992
dbSNP: rs121908547
rs121908547
SCN4A
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: rs80338792
rs80338792
SCN4A
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: rs80338962
rs80338962
SCN4A
C 0.820 CausalMutation CLINVAR In addition, the close-by occurring substitution of valine for methionine at position 1592 known to cause hyperkalemic periodic paralysis was deduced for six families with the myotonic, non-dystrophic form of this disease. 8242056

1993
dbSNP: rs121908548
rs121908548
SCN4A
T 0.700 CausalMutation CLINVAR A novel SCN4A mutation causing myotonia aggravated by cold and potassium. 8242056

1993
dbSNP: rs80338792
rs80338792
SCN4A
T 0.700 CausalMutation CLINVAR Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. 8308722

1993
dbSNP: rs80338792
rs80338792
SCN4A
G 0.700 CausalMutation CLINVAR Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. 8308722

1993
dbSNP: rs80338792
rs80338792
SCN4A
A 0.700 CausalMutation CLINVAR Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. 8308722

1993
dbSNP: rs80338957
rs80338957
SCN4A
A 0.850 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. 7809121

1994
dbSNP: rs121908544
rs121908544
SCN4A
A 0.700 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation. 8110459

1994
dbSNP: rs121908544
rs121908544
SCN4A
A 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
dbSNP: rs121908544
rs121908544
SCN4A
A 0.700 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. 7809121

1994
dbSNP: rs121908545
rs121908545
SCN4A
T 0.700 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. 7809121

1994
dbSNP: rs121908545
rs121908545
SCN4A
G 0.700 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation. 8110459

1994
dbSNP: rs121908545
rs121908545
SCN4A
T 0.700 CausalMutation CLINVAR Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation. 8110459

1994
dbSNP: rs121908545
rs121908545
SCN4A
T 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