TPM3, tropomyosin 3, 7170

N. diseases: 297; N. variants: 25
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: rs80358247
rs80358247 		0.882 0.080 1 154191993 missense variant A/C snv 4.0E-06
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 1 2002 2002
dbSNP: rs121964852
rs121964852 		0.851 0.080 1 154172971 missense variant C/T snv
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs199474714
rs199474714 		0.925 0.080 1 154173113 missense variant C/T snv
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010