Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775539496
rs775539496
DYSF
0.010 GeneticVariation BEFREE These observations confirmed that TAs were associated with T704M mutations of SCN4A in paralysis periodica paramyotonica.Some proteins can mislocate in the TAs. 19077043

2009
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: rs990388342
rs990388342
CACNA1S
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
dbSNP: rs121908544
rs121908544
SCN4A
A 0.850 CausalMutation CLINVAR

dbSNP: rs80338957
rs80338957
SCN4A
A 0.840 CausalMutation CLINVAR

dbSNP: rs121908545
rs121908545
SCN4A
T 0.820 CausalMutation CLINVAR

dbSNP: rs121908547
rs121908547
SCN4A
A 0.820 CausalMutation CLINVAR

dbSNP: rs121908548
rs121908548
SCN4A
T 0.810 CausalMutation CLINVAR

dbSNP: rs121908551
rs121908551
SCN4A
T 0.810 CausalMutation CLINVAR

dbSNP: rs121908554
rs121908554
SCN4A
T 0.810 CausalMutation CLINVAR

dbSNP: rs80338792
rs80338792
SCN4A
A 0.810 CausalMutation CLINVAR

dbSNP: rs121908550
rs121908550
SCN4A
C 0.800 CausalMutation CLINVAR

dbSNP: rs80338956
rs80338956
SCN4A ; LOC105371858
G 0.800 CausalMutation CLINVAR

dbSNP: rs80338962
rs80338962
SCN4A
C 0.720 CausalMutation CLINVAR

dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
T 0.710 CausalMutation CLINVAR

dbSNP: rs121908559
rs121908559
SCN4A
T 0.700 CausalMutation CLINVAR

dbSNP: rs121908561
rs121908561
SCN4A
C 0.700 CausalMutation CLINVAR

dbSNP: rs527236148
rs527236148
SCN4A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041805
rs886041805
SCN4A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121908544
rs121908544
SCN4A
0.850 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: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita. 10727489

2000
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A. 19077043

2009
dbSNP: rs121908544
rs121908544
SCN4A
0.850 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: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M. 15318338

2004
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. 8388676

1993