TBK1, TANK binding kinase 1, 29110

N. diseases: 207; N. variants: 26
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: rs74654358
rs74654358
1.000 0.080 12 64488187 intron variant G/A snv 3.0E-02
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2016 2018
dbSNP: rs142030898
rs142030898
1.000 0.080 12 64486007 stop gained C/T snv 1.3E-05 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs748112833
rs748112833
0.925 0.080 12 64497987 missense variant G/A snv 8.3E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015