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: 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: 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: 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
dbSNP: rs80356719
rs80356719 		0.882 0.080 1 11022268 missense variant G/A;C snv 1.6E-05
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.800 1.000 4 2008 2015
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: rs80356735
rs80356735 		1.000 1 11022492 missense variant G/T snv
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.700 1.000 13 2008 2012
dbSNP: rs80356738
rs80356738 		0.925 0.080 1 11022544 missense variant T/C;G snv
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.700 1.000 13 2008 2012
dbSNP: rs80356739
rs80356739 		1.000 1 11022545 missense variant C/G snv
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.700 1.000 13 2008 2012
dbSNP: rs80356741
rs80356741 		1.000 1 11022577 missense variant A/G snv 4.3E-06 7.0E-06
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.700 1.000 13 2008 2012
dbSNP: rs80356742
rs80356742 		1.000 1 11022578 missense variant A/G snv 2.2E-05 4.2E-05
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.700 1.000 13 2008 2012
dbSNP: rs80356743
rs80356743 		1.000 1 11022587 missense variant C/T snv 8.7E-06
CUI: C2677565
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 		0.700 1.000 13 2008 2012
dbSNP: rs80356730
rs80356730 		0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06
CUI: C3150169
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 		0.700 1.000 10 2008 2017
dbSNP: rs1131690782
rs1131690782 		1.000 0.040 1 11022452 missense variant G/T snv
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs12711521
rs12711521 		0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs34247753
rs34247753 		1.000 0.080 1 11014942 intron variant A/-;AA delins
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs80356719
rs80356719 		0.882 0.080 1 11022268 missense variant G/A;C snv 1.6E-05
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.700 1.000 1 2017 2017
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