Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1064794243
rs1064794243
SCN4A
0.700 GeneticVariation UNIPROT

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: rs80338962
rs80338962
SCN4A
0.720 GeneticVariation BEFREE Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype. 9131651

1997
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation BEFREE C4342T-mutation in the SCN4A gene on chromosome 17q in a Swedish family with paramyotonia congenita (Eulenburg)--correlations with clinical, neurophysiological and muscle biopsy data. 9196904

1997
dbSNP: rs121908547
rs121908547
SCN4A
0.820 GeneticVariation BEFREE A child carrying the Thr1313Met SCN4A mutation associated with paramyotonia congenita. 21220685

2011
dbSNP: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation BEFREE A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies. 12483017

2002
dbSNP: rs121908544
rs121908544
SCN4A
0.850 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: rs80338957
rs80338957
SCN4A
0.840 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: rs121908545
rs121908545
SCN4A
0.820 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: rs121908547
rs121908547
SCN4A
0.820 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