Gene: SCN4A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
dbSNP: rs912001256
rs912001256
SCN4A
A 0.700 CausalMutation CLINVAR

dbSNP: rs202102815
rs202102815
SCN4A
0.010 GeneticVariation BEFREE This case report proposes that a rare variant p.Pro1629Leu in SCN4A can cause a skeletal muscle deficit with intermittent dysphagia. 28012096

2017