Gene: SELENON ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908188
rs121908188
SELENON
0.810 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs121908188
rs121908188
SELENON
0.810 GeneticVariation UNIPROT A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. 19067361

2009
dbSNP: rs121908188
rs121908188
SELENON
0.810 GeneticVariation UNIPROT Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. 18713863

2008
dbSNP: rs121908188
rs121908188
SELENON
0.810 GeneticVariation UNIPROT Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 15668457

2005
dbSNP: rs121908188
rs121908188
SELENON
0.810 GeneticVariation UNIPROT Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. 15122708

2004
dbSNP: rs121908188
rs121908188
SELENON
0.810 GeneticVariation UNIPROT 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
0.810 GeneticVariation UNIPROT Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. 11528383

2001
dbSNP: rs121908182
rs121908182
SELENON
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs121908186
rs121908186
SELENON
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs779162837
rs779162837
SELENON
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs121908182
rs121908182
SELENON
0.800 GeneticVariation UNIPROT A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. 19067361

2009
dbSNP: rs121908185
rs121908185
SELENON
0.800 GeneticVariation UNIPROT A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. 19067361

2009
dbSNP: rs121908186
rs121908186
SELENON
0.800 GeneticVariation UNIPROT A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. 19067361

2009
dbSNP: rs121908187
rs121908187
SELENON
0.800 GeneticVariation UNIPROT A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. 19067361

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

2009
dbSNP: rs121908182
rs121908182
SELENON
0.800 GeneticVariation UNIPROT Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. 18713863

2008
dbSNP: rs121908185
rs121908185
SELENON
0.800 GeneticVariation UNIPROT Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. 18713863

2008
dbSNP: rs121908186
rs121908186
SELENON
0.800 GeneticVariation UNIPROT Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. 18713863

2008
dbSNP: rs121908187
rs121908187
SELENON
0.800 GeneticVariation UNIPROT Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. 18713863

2008
dbSNP: rs779162837
rs779162837
SELENON
0.800 GeneticVariation UNIPROT Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. 18713863

2008
dbSNP: rs121908182
rs121908182
SELENON
0.800 GeneticVariation UNIPROT Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 15668457

2005
dbSNP: rs121908185
rs121908185
SELENON
0.800 GeneticVariation UNIPROT Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 15668457

2005
dbSNP: rs121908186
rs121908186
SELENON
0.800 GeneticVariation UNIPROT Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 15668457

2005
dbSNP: rs121908187
rs121908187
SELENON
0.800 GeneticVariation UNIPROT Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 15668457

2005
dbSNP: rs779162837
rs779162837
SELENON
0.800 GeneticVariation UNIPROT Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 15668457

2005