Gene: SELENON ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908188
rs121908188
SELENON
A 0.810 CausalMutation CLINVAR Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 23394784

2013
dbSNP: rs121908188
rs121908188
SELENON
A 0.810 CausalMutation CLINVAR The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. 17951086

2008
dbSNP: rs121908188
rs121908188
SELENON
A 0.810 CausalMutation CLINVAR Two sisters with CFTD were homozygous for the 943G-->A SEPN1 mutation and had clinical features typical of previously reported patients with SEPN1-related myopathy. 16365872

2006
dbSNP: rs121908188
rs121908188
SELENON
A 0.810 CausalMutation CLINVAR Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 15668457

2005
dbSNP: rs121908188
rs121908188
SELENON
A 0.810 CausalMutation CLINVAR Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. 12192640

2002
dbSNP: rs121908188
rs121908188
SELENON
A 0.810 GeneticVariation CLINVAR

dbSNP: rs1553198464
rs1553198464
SELENON
A 0.700 CausalMutation CLINVAR

dbSNP: rs199564797
rs199564797
SELENON
A 0.700 GeneticVariation CLINVAR

dbSNP: rs745886248
rs745886248
SELENON
A 0.700 GeneticVariation CLINVAR

dbSNP: rs797045950
rs797045950
SELENON
GCCT 0.700 GeneticVariation CLINVAR