TNNT1, troponin T1, slow skeletal type, 7138

N. diseases: 60; N. variants: 6
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: rs80358249
rs80358249 		0.925 0.080 19 55137176 stop gained C/A snv 4.0E-06 1.6E-04
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0