Disease: Myopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908557
rs121908557
Entrez Id: 6329;105371858
Gene Symbol: SCN4A;LOC105371858
SCN4A;LOC105371858
CUI: C0026848
Disease:
Myopathy 		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
Entrez Id: 6329;105371858
Gene Symbol: SCN4A;LOC105371858
SCN4A;LOC105371858
CUI: C0026848
Disease:
Myopathy 		T 0.700 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759 2004
dbSNP: rs912001256
rs912001256
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0026848
Disease:
Myopathy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs80338962
rs80338962
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0026848
Disease:
Myopathy 		0.010 GeneticVariation BEFREE The present study is to observe in vitro the proliferation ability of the muscle cells from permanent myopathy (PM) patients of nomokalaemic periodic paralysis (normKPP), which is caused by mutations of Met1592Val in the skeletal muscle voltage gated sodium channel (SCN4A) gene on chromosome 17q23.1. 19290024 2009