ACTA1, actin alpha 1, skeletal muscle, 58

N. diseases: 217; N. variants: 59
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: rs121909520
rs121909520 		0.925 0.080 1 229432660 missense variant T/C snv
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1273559032
rs1273559032 		1.000 0.080 1 229432619 missense variant C/T snv
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs267606626
rs267606626 		1.000 0.080 1 229432788 missense variant C/A snv
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs267606627
rs267606627 		1.000 0.080 1 229432787 missense variant G/A;T snv
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs886044062
rs886044062 		1.000 0.080 1 229432087 missense variant C/T snv
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011