Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377215510
rs377215510
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		T 0.700 CausalMutation CLINVAR Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). 15792869

2005