TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Frontotemporal dementia ×
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: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.030 0.333 3 2012 2017
dbSNP: rs80356726
rs80356726 		0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.030 1.000 3 2013 2016
dbSNP: rs367543041
rs367543041 		0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs80356730
rs80356730 		0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013