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: 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: rs797045950
rs797045950 		1.000 0.080 1 25809104 protein altering variant -/CCT delins
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797044621
rs797044621 		1.000 0.120 1 25800233 frameshift variant -/CGGCCGGGCC delins 7.3E-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 0.700 0
dbSNP: rs1553198611
rs1553198611 		1.000 0.120 1 25801105 frameshift variant -/GG 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 0
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: 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: 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: rs1553198464
rs1553198464 		1.000 0.080 1 25800218 start lost AGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCC/- delins
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs4659382
rs4659382 		1.000 0.080 1 25808435 intron variant C/A;G snv
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs718391
rs718391 		1.000 0.080 1 25799343 upstream gene variant C/G snv 0.54
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
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: 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: rs1557814050
rs1557814050 		1.000 0.120 1 25800396 stop gained C/T 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 0.700 0
dbSNP: rs760063405
rs760063405 		1.000 0.120 1 25812780 stop gained C/T snv 8.1E-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 0
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: 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: 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: rs1553120047
rs1553120047 		1.000 0.120 1 25808707 stop gained 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 0.700 0
dbSNP: rs1553120202
rs1553120202 		1.000 0.120 1 25809731 stop gained 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 0.700 0
dbSNP: rs199564797
rs199564797 		0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		0.700 0
dbSNP: rs199564797
rs199564797 		0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.700 0
dbSNP: rs199564797
rs199564797 		0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0409354
Disease: Flexion contracture of hip
Flexion contracture of hip 		Musculoskeletal Diseases 0.700 0
dbSNP: rs199564797
rs199564797 		0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 0
dbSNP: rs199564797
rs199564797 		0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
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
dbSNP: rs199564797
rs199564797 		0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0