SELENON, selenoprotein N, 57190

N. diseases: 147; N. variants: 30
Disease: Congenital Fiber Type Disproportion ×
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: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 5 2002 2013
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: rs199564797
rs199564797 		0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs745886248
rs745886248 		0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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