Disease: PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908546
rs121908546
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C4016868
Disease:
PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA 		A 0.700 CausalMutation CLINVAR