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 A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. 19067361

2009
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 SEPN1: associated with congenital fiber-type disproportion and insulin resistance. 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: rs121908185
rs121908185
SELENON
A 0.800 CausalMutation CLINVAR A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. 19067361

2009
dbSNP: rs756927098
rs756927098
SELENON
T 0.800 GeneticVariation CLINVAR A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. 19067361

2009
dbSNP: rs779162837
rs779162837
SELENON
A 0.800 GeneticVariation CLINVAR A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. 19067361

2009
dbSNP: rs121908185
rs121908185
SELENON
A 0.800 CausalMutation CLINVAR Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. 18713863

2008
dbSNP: rs121908182
rs121908182
SELENON
A 0.800 CausalMutation CLINVAR

dbSNP: rs121908186
rs121908186
SELENON
C 0.800 CausalMutation CLINVAR

dbSNP: rs121908187
rs121908187
SELENON
G 0.800 CausalMutation CLINVAR

dbSNP: rs368104077
rs368104077
SELENON
CA 0.700 CausalMutation CLINVAR Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704

2017
dbSNP: rs1174570887
rs1174570887
SELENON
C 0.700 CausalMutation CLINVAR Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 23394784

2013
dbSNP: rs1174570887
rs1174570887
SELENON
G 0.700 CausalMutation CLINVAR Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 23394784

2013
dbSNP: rs121908184
rs121908184
SELENON
G 0.700 CausalMutation CLINVAR Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 23394784

2013
dbSNP: rs199564797
rs199564797
SELENON
A 0.700 CausalMutation CLINVAR SEPN1-related myopathies: clinical course in a large cohort of patients. 21670436

2011
dbSNP: rs773670891
rs773670891
SELENON
C 0.700 GeneticVariation CLINVAR Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. 21131290

2011
dbSNP: rs773670891
rs773670891
SELENON
C 0.700 GeneticVariation CLINVAR SEPN1-related myopathies: clinical course in a large cohort of patients. 21670436

2011
dbSNP: rs368104077
rs368104077
SELENON
CA 0.700 CausalMutation CLINVAR The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. 17951086

2008
dbSNP: rs1174570887
rs1174570887
SELENON
C 0.700 CausalMutation CLINVAR Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. 16779558

2006
dbSNP: rs121908184
rs121908184
SELENON
G 0.700 CausalMutation CLINVAR Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. 16779558

2006
dbSNP: rs368104077
rs368104077
SELENON
CA 0.700 CausalMutation CLINVAR Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). 15792869

2005