TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
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: rs80356715
rs80356715
0.807 0.120 1 11016874 missense variant C/G;T snv 8.0E-06; 2.2E-04
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs80356726
rs80356726
0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013