MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Frontotemporal Lobar Degeneration ×
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: rs63751273
rs63751273 		0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.050 1.000 5 2008 2019
dbSNP: rs143624519
rs143624519 		0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.020 1.000 2 2017 2019
dbSNP: rs63750092
rs63750092 		0.882 0.120 17 46014277 missense variant A/T snv
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs63750096
rs63750096 		1.000 0.120 17 45996557 missense variant G/A;T snv 6.3E-04
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs63750129
rs63750129 		0.882 0.120 17 45996612 missense variant A/C snv 4.0E-06
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs63750349
rs63750349 		0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs63750424
rs63750424 		0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs63750756
rs63750756 		0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006