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: C0026848
Disease: Myopathy
Myopathy
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: C0026848
Disease: Myopathy
Myopathy
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: C0026848
Disease: Myopathy
Myopathy
Musculoskeletal Diseases; Nervous System Diseases 0.700 0