Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908188
rs121908188
SELENON
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		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
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		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
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		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
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		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
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		A 0.810 CausalMutation CLINVAR SEPN1: associated with congenital fiber-type disproportion and insulin resistance. 16365872

2006
dbSNP: rs121908188
rs121908188
SELENON
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		A 0.810 CausalMutation CLINVAR Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 15668457

2005
dbSNP: rs121908188
rs121908188
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		A 0.810 CausalMutation CLINVAR Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 15668457

2005
dbSNP: rs121908188
rs121908188
SELENON
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		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
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		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
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		A 0.810 GeneticVariation CLINVAR

dbSNP: rs121908188
rs121908188
SELENON
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		A 0.810 GeneticVariation CLINVAR

dbSNP: rs121908182
rs121908182
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121908185
rs121908185
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		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: rs121908185
rs121908185
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		A 0.800 CausalMutation CLINVAR Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. 18713863

2008
dbSNP: rs121908186
rs121908186
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		C 0.800 CausalMutation CLINVAR

dbSNP: rs121908187
rs121908187
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		G 0.800 CausalMutation CLINVAR

dbSNP: rs756927098
rs756927098
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		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
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		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: rs1174570887
rs1174570887
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		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
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		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: rs1174570887
rs1174570887
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		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: rs1174570887
rs1174570887
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		C 0.700 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: rs1174570887
rs1174570887
SELENON
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		G 0.700 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