Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042522
rs1042522
TP53
0.010 GeneticVariation BEFREE The P allele of the P72R polymorphism was more common than the R allele in PMC patients compared to controls (39% vs. 24%), and the difference was significant (p = 0.02). 29333597

2017
dbSNP: rs1131691014
rs1131691014
TP53
0.010 GeneticVariation BEFREE The P allele of the P72R polymorphism was more common than the R allele in PMC patients compared to controls (39% vs. 24%), and the difference was significant (p = 0.02). 29333597

2017
dbSNP: rs878854066
rs878854066
TP53
0.010 GeneticVariation BEFREE The P allele of the P72R polymorphism was more common than the R allele in PMC patients compared to controls (39% vs. 24%), and the difference was significant (p = 0.02). 29333597

2017
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Cold extends electromyography distinction between ion channel mutations causing myotonia. 16786525

2006
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M. 15318338

2004
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. 1338909

1992
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile). 8580427

1995
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita. 10727489

2000
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. 8388676

1993
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. 1316765

1992
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A. 19077043

2009
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating. 18690054

2008
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. 20076800

2009
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT A novel SCN4A mutation causing myotonia aggravated by cold and potassium. 8242056

1993
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg. 10369308

1999
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. 18166706

2008
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation. 15790667

2005
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. 8308722

1993
dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
G 0.800 CausalMutation CLINVAR

dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
0.800 GeneticVariation UNIPROT Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. 1310898

1992
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
T 0.710 CausalMutation CLINVAR

dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
0.710 GeneticVariation BEFREE As a result, heterozygous mutations c.2024G>A (R675Q) and c.1333G>A (V445M) of gene SCN4A were identified in the hypokalemic periodic paralysis patient and the paramyotonia congenita family respectively. 25839108

2015
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
0.710 GeneticVariation BEFREE As a result, heterozygous mutations c.2024G>A (R675Q) and c.1333G>A (V445M) of gene SCN4A were identified in the hypokalemic periodic paralysis patient and the paramyotonia congenita family respectively. 25839108

2015
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.010 GeneticVariation BEFREE As a result, heterozygous mutations c.2024G>A (R675Q) and c.1333G>A (V445M) of gene SCN4A were identified in the hypokalemic periodic paralysis patient and the paramyotonia congenita family respectively. 25839108

2015