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 CausalMutation CLINVAR [Screening of genetic mutations in a Chinese pedigree affected with hypokalemic periodic paralysis]. 29419865

2018
dbSNP: rs121908545
rs121908545
SCN4A
T 0.700 CausalMutation CLINVAR Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature. 27415035

2017
dbSNP: rs1567816549
rs1567816549
SCN4A
G 0.700 GeneticVariation CLINVAR A SCN4A mutation causing paramyotonia congenita. 29111379

2017
dbSNP: rs80338792
rs80338792
SCN4A
A 0.700 CausalMutation CLINVAR Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature. 27415035

2017
dbSNP: rs121908551
rs121908551
SCN4A
T 0.700 CausalMutation CLINVAR A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A. 27486940

2016
dbSNP: rs80338792
rs80338792
SCN4A
T 0.700 CausalMutation CLINVAR Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review. 26944947

2016
dbSNP: rs80338792
rs80338792
SCN4A
A 0.700 CausalMutation CLINVAR Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review. 26944947

2016
dbSNP: rs121908547
rs121908547
SCN4A
A 0.700 CausalMutation CLINVAR Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison. 26834636

2015
dbSNP: rs121908547
rs121908547
SCN4A
A 0.700 CausalMutation CLINVAR Imaging alterations in skeletal muscle channelopathies: a study in 15 patients. 27199537

2015
dbSNP: rs121908548
rs121908548
SCN4A
T 0.700 CausalMutation CLINVAR Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report. 25755818

2015
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
G 0.700 GeneticVariation CLINVAR Imaging alterations in skeletal muscle channelopathies: a study in 15 patients. 27199537

2015
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR Phenotypic variability in childhood of skeletal muscle sodium channelopathies. 25724373

2015
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR Mutations of SCN4A gene cause different diseases: 2 case reports and literature review. 25839108

2015
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR Mutations of SCN4A gene cause different diseases: 2 case reports and literature review. 25839108

2015
dbSNP: rs80338785
rs80338785
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis. 26252573

2015
dbSNP: rs80338785
rs80338785
SCN4A ; LOC105371858
A 0.700 CausalMutation CLINVAR Imaging alterations in skeletal muscle channelopathies: a study in 15 patients. 27199537

2015
dbSNP: rs80338785
rs80338785
SCN4A ; LOC105371858
A 0.700 CausalMutation CLINVAR Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis. 26252573

2015
dbSNP: rs80338788
rs80338788
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients. 25213595

2015
dbSNP: rs80338788
rs80338788
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis. 26252573

2015
dbSNP: rs80338792
rs80338792
SCN4A
G 0.700 CausalMutation CLINVAR Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia. 26885337

2015
dbSNP: rs80338792
rs80338792
SCN4A
G 0.700 CausalMutation CLINVAR Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation. 26080010

2015
dbSNP: rs80338792
rs80338792
SCN4A
A 0.700 CausalMutation CLINVAR Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation. 26080010

2015
dbSNP: rs80338792
rs80338792
SCN4A
T 0.700 CausalMutation CLINVAR Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation. 26080010

2015
dbSNP: rs80338792
rs80338792
SCN4A
A 0.700 CausalMutation CLINVAR Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia. 26885337

2015
dbSNP: rs80338957
rs80338957
SCN4A
A 0.700 CausalMutation CLINVAR Whole-Body Muscle MRI in Patients with Hyperkalemic Periodic Paralysis Carrying the SCN4A Mutation T704M: Evidence for Chronic Progressive Myopathy with Selective Muscle Involvement. 26256659

2015