SELENON, selenoprotein N, 57190

N. diseases: 147; N. variants: 30
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908188
rs121908188 		0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 10 2001 2013
dbSNP: rs121908188
rs121908188 		0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 5 2002 2013
dbSNP: rs121908182
rs121908182 		1.000 0.120 1 25809096 missense variant G/A snv
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 7 2001 2010
dbSNP: rs121908186
rs121908186 		1.000 0.120 1 25812763 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 7 2001 2010
dbSNP: rs779162837
rs779162837 		1.000 0.120 1 25813899 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 7 2001 2010
dbSNP: rs121908185
rs121908185 		1.000 0.120 1 25813890 missense variant G/A snv 4.8E-05 6.3E-05
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 6 2001 2009
dbSNP: rs121908187
rs121908187 		1.000 0.120 1 25812789 missense variant T/G snv
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 6 2001 2009
dbSNP: rs756927098
rs756927098 		1.000 0.120 1 25813898 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2009 2009
dbSNP: rs749911126
rs749911126 		1.000 0.120 1 25811462 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 6 2001 2009
dbSNP: rs776738184
rs776738184 		1.000 0.120 1 25809688 missense variant A/G snv 8.0E-06
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 6 2001 2009
dbSNP: rs368104077
rs368104077 		1.000 0.120 1 25808753 frameshift variant -/A delins
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2002 2017
dbSNP: rs1174570887
rs1174570887 		1.000 0.120 1 25800232 start lost T/A;C;G snv 7.4E-06
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2002 2013
dbSNP: rs121908184
rs121908184 		1.000 0.120 1 25800231 start lost A/G snv 4.5E-05
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2002 2013
dbSNP: rs773670891
rs773670891 		1.000 0.120 1 25802115 splice donor variant GAGT/- delins 1.1E-04 3.2E-04
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2011 2011
dbSNP: rs199564797
rs199564797 		0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs377215510
rs377215510 		1.000 0.120 1 25812720 stop gained C/G;T snv 2.8E-05
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2005 2005
dbSNP: rs121908188
rs121908188 		0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908188
rs121908188 		0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121908188
rs121908188 		0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121908188
rs121908188 		0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121908188
rs121908188 		0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908188
rs121908188 		0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C4023918
Disease: Short hard palate
Short hard palate 		0.700 0
dbSNP: rs121908188
rs121908188 		0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.700 0
dbSNP: rs121908188
rs121908188 		0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121908188
rs121908188 		0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0