rs80356733, TARDBP

N. diseases: 6
Source: BEFREE ×
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
411 0.790 0.200 1 11022451 missense variant G/T snv 0.070 1.000 7 2008 2019
Amyotrophic Lateral Sclerosis, Familial
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
68 0.790 0.200 1 11022451 missense variant G/T snv 0.010 1.000 1 2011 2011
General Paralysis
CUI: C0205858
Disease: General Paralysis
3 0.790 0.200 1 11022451 missense variant G/T snv 0.010 1.000 1 2012 2012
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
223 0.790 0.200 1 11022451 missense variant G/T snv 0.010 1.000 1 2008 2008
Motor neuron atrophy
CUI: C4024896
Disease: Motor neuron atrophy
21 0.790 0.200 1 11022451 missense variant G/T snv 0.010 1.000 1 2012 2012
Respiratory Failure
CUI: C1145670
Disease: Respiratory Failure
13 0.790 0.200 1 11022451 missense variant G/T snv 0.010 1.000 1 2008 2008