TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Motor Neuron Disease ×
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: rs1131690782
rs1131690782 		1.000 0.040 1 11022452 missense variant G/T snv
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs80356719
rs80356719 		0.882 0.080 1 11022268 missense variant G/A;C snv 1.6E-05
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs80356726
rs80356726 		0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.010 1.000 1 2008 2008