rs80356726, TARDBP

N. diseases: 12
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
25 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.800 1.000 13 2008 2012
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.100 1.000 14 2011 2019
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.030 1.000 3 2013 2016
Amyotrophic Lateral Sclerosis, Familial
68 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
Familial Motor Neuron Disease
CUI: C0270763
Disease: Familial Motor Neuron Disease
2 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
Frontotemporal Lobar Degeneration
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
54 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
52 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
Neurologic Symptoms
CUI: C0235031
Disease: Neurologic Symptoms
30 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
Seizures
CUI: C0036572
Disease: Seizures
553 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
TDP-43 Proteinopathies
CUI: C2718017
Disease: TDP-43 Proteinopathies
1 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018