NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Disease: Myopathies, Nemaline ×
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: rs191579691
rs191579691 		0.925 0.080 2 151561212 missense variant C/A;T snv 5.9E-05; 8.4E-06
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2006 2016