RS118047588 SCN4A

Health Risk Chr 17:63942891 snv missense variant
Upload your DNA to see your genotype for this variant.
Associated Conditions
Hyperkalemic periodic paralysis
6 conditions
7 conditions
Hypokalemic periodic paralysis
type 2
Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16
SCN4A-related disorder
7 conditions
Hyperkalemic periodic paralysis
6 conditions
7 conditions
Hypokalemic periodic paralysis
Population Frequencies
gnomAD ALL
0%
1kG AFR
0.1%
1kG ALL
0.1%
1kG AMR
99.9%
1kG EAS
0.1%
1kG EUR
100%
1kG SAS
100%
Other Variants in SCN4A
rs80338957 rs80338962 rs121908544 rs121908545 rs80338958 rs121908546 rs121908556 rs80338792 rs121908547 rs121908548
Ask Dr. Hemsworth about this variant