Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908548
rs121908548
SCN4A
0.810 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: rs121908551
rs121908551
SCN4A
0.810 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: rs80338792
rs80338792
SCN4A
0.810 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: rs121908550
rs121908550
SCN4A
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 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: rs121908546
rs121908546
SCN4A
0.700 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: rs80338958
rs80338958
SCN4A
0.700 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: rs121908544
rs121908544
SCN4A
0.850 GeneticVariation UNIPROT A novel SCN4A mutation causing myotonia aggravated by cold and potassium. 8242056

1993
dbSNP: rs80338957
rs80338957
SCN4A
0.840 GeneticVariation UNIPROT A novel SCN4A mutation causing myotonia aggravated by cold and potassium. 8242056

1993
dbSNP: rs121908545
rs121908545
SCN4A
0.820 GeneticVariation UNIPROT A novel SCN4A mutation causing myotonia aggravated by cold and potassium. 8242056

1993
dbSNP: rs121908547
rs121908547
SCN4A
0.820 GeneticVariation UNIPROT A novel SCN4A mutation causing myotonia aggravated by cold and potassium. 8242056

1993
dbSNP: rs121908548
rs121908548
SCN4A
0.810 GeneticVariation UNIPROT A novel SCN4A mutation causing myotonia aggravated by cold and potassium. 8242056

1993
dbSNP: rs121908551
rs121908551
SCN4A
0.810 GeneticVariation UNIPROT A novel SCN4A mutation causing myotonia aggravated by cold and potassium. 8242056

1993
dbSNP: rs121908554
rs121908554
SCN4A
0.810 GeneticVariation UNIPROT A novel SCN4A mutation causing myotonia aggravated by cold and potassium. 8242056

1993
dbSNP: rs80338792
rs80338792
SCN4A
0.810 GeneticVariation UNIPROT A novel SCN4A mutation causing myotonia aggravated by cold and potassium. 8242056

1993
dbSNP: rs121908550
rs121908550
SCN4A
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 SCN4A mutation causing myotonia aggravated by cold and potassium. 8242056

1993
dbSNP: rs121908546
rs121908546
SCN4A
0.700 GeneticVariation UNIPROT A novel SCN4A mutation causing myotonia aggravated by cold and potassium. 8242056

1993
dbSNP: rs80338958
rs80338958
SCN4A
0.700 GeneticVariation UNIPROT A novel SCN4A mutation causing myotonia aggravated by cold and potassium. 8242056

1993
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: rs80338957
rs80338957
SCN4A
0.840 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: rs121908545
rs121908545
SCN4A
0.820 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: rs121908547
rs121908547
SCN4A
0.820 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: rs121908548
rs121908548
SCN4A
0.810 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: rs121908551
rs121908551
SCN4A
0.810 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