Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199564797
rs199564797
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		A 0.700 CausalMutation CLINVAR SEPN1-related myopathies: clinical course in a large cohort of patients. 21670436

2011
dbSNP: rs199564797
rs199564797
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		A 0.700 GeneticVariation CLINVAR