TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
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: rs267607102
rs267607102 		0.851 0.120 1 11022196 missense variant A/G snv
CUI: C3148872
Disease: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED 		0.700 0
dbSNP: rs367543041
rs367543041 		0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05
CUI: C3148872
Disease: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED 		0.700 0
dbSNP: rs387906334
rs387906334 		0.925 1 11023351 3 prime UTR variant G/A snv
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.700 0
dbSNP: rs387906334
rs387906334 		0.925 1 11023351 3 prime UTR variant G/A snv
CUI: C3148872
Disease: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED 		0.700 0
dbSNP: rs797044595
rs797044595 		1.000 1 11022562 missense variant T/G snv
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.700 0
dbSNP: rs80356717
rs80356717 		0.851 0.120 1 11018836 missense variant A/G snv
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.700 0
dbSNP: rs80356718
rs80356718 		0.827 0.120 1 11022209 missense variant A/G snv 7.6E-05 4.9E-05
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.700 0
dbSNP: rs80356721
rs80356721 		0.925 0.080 1 11022290 missense variant G/A;C;T snv 4.0E-06; 1.2E-05
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.700 0
dbSNP: rs80356723
rs80356723 		1.000 1 11022292 missense variant G/A;C;T snv 8.0E-06; 4.0E-06
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.700 0
dbSNP: rs80356734
rs80356734 		0.851 0.160 1 11022464 missense variant A/G snv
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.700 0
dbSNP: rs80356744
rs80356744 		1.000 1 11022737 3 prime UTR variant T/C snv 4.2E-05
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.700 0
dbSNP: rs367543041
rs367543041 		0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs80356715
rs80356715 		0.807 0.120 1 11016874 missense variant C/G;T snv 8.0E-06; 2.2E-04
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.030 0.333 3 2012 2017
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: rs80356730
rs80356730 		0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 1.000 22 2008 2017
dbSNP: rs4884357
rs4884357 		0.807 0.120 1 11022301 missense variant G/A;T snv 4.0E-06
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 1.000 19 2008 2017
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: rs121908395
rs121908395 		0.925 0.080 1 11022278 missense variant G/C;T snv
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 1.000 13 2008 2012
dbSNP: rs367543041
rs367543041 		0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 1.000 13 2008 2012
dbSNP: rs80356726
rs80356726 		0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 1.000 13 2008 2012
dbSNP: rs80356727
rs80356727 		0.925 0.080 1 11022400 missense variant C/A snv
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 1.000 13 2008 2012
dbSNP: rs80356728
rs80356728 		1.000 1 11022404 missense variant G/A snv
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.700 1.000 13 2008 2012
dbSNP: rs80356729
rs80356729 		1.000 1 11022413 missense variant G/A snv
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.700 1.000 13 2008 2012
dbSNP: rs80356731
rs80356731 		0.882 0.080 1 11022437 missense variant A/G snv
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 1.000 13 2008 2012
dbSNP: rs80356733
rs80356733 		0.790 0.200 1 11022451 missense variant G/T snv
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 1.000 13 2008 2012