TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Amyotrophic Lateral Sclerosis ×
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: rs80356726
rs80356726 		0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 1.000 14 2011 2019
dbSNP: rs367543041
rs367543041 		0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.090 1.000 9 2009 2016
dbSNP: rs80356733
rs80356733 		0.790 0.200 1 11022451 missense variant G/T snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.070 1.000 7 2008 2019
dbSNP: rs80356730
rs80356730 		0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.060 1.000 6 2013 2019
dbSNP: rs80356715
rs80356715 		0.807 0.120 1 11016874 missense variant C/G;T snv 8.0E-06; 2.2E-04
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.040 0.500 4 2008 2017
dbSNP: rs80356727
rs80356727 		0.925 0.080 1 11022400 missense variant C/A snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.040 1.000 4 2013 2019
dbSNP: rs4884357
rs4884357 		0.807 0.120 1 11022301 missense variant G/A;T snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2018 2018
dbSNP: rs766196255
rs766196255 		1.000 0.080 1 11022532 missense variant A/G snv 2.6E-05 1.4E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2012 2019
dbSNP: rs80356717
rs80356717 		0.851 0.120 1 11018836 missense variant A/G snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2015 2018
dbSNP: rs80356721
rs80356721 		0.925 0.080 1 11022290 missense variant G/A;C;T snv 4.0E-06; 1.2E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2009 2012
dbSNP: rs121908395
rs121908395 		0.925 0.080 1 11022278 missense variant G/C;T snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs267607102
rs267607102 		0.851 0.120 1 11022196 missense variant A/G snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs797044594
rs797044594 		0.925 0.080 1 11022559 missense variant G/C snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs80356718
rs80356718 		0.827 0.120 1 11022209 missense variant A/G snv 7.6E-05 4.9E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs80356719
rs80356719 		0.882 0.080 1 11022268 missense variant G/A;C snv 1.6E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs80356732
rs80356732 		0.925 0.080 1 11022444 missense variant C/A snv 8.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs80356734
rs80356734 		0.851 0.160 1 11022464 missense variant A/G snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs80356738
rs80356738 		0.925 0.080 1 11022544 missense variant T/C;G snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019