TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: TDP-43 Proteinopathies ×
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: rs80356726
rs80356726 		0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06
CUI: C2718017
Disease: TDP-43 Proteinopathies
TDP-43 Proteinopathies 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018