Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555230924
rs1555230924
SCN8A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. 25914188

2015