TOR1AIP1, torsin 1A interacting protein 1, 26092

N. diseases: 39; N. variants: 4
Disease: EMG ×
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: rs201518227
rs201518227 		1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0