ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
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: rs1373863123
rs1373863123 		1.000 0.080 7 5529540 missense variant G/A snv
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs397515470
rs397515470 		0.925 0.280 7 5529175 missense variant C/T snv
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013