MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
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: rs63750756
rs63750756 		0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.900 1.000 39 1998 2019
dbSNP: rs63751273
rs63751273 		0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.900 1.000 35 1998 2019
dbSNP: rs63751438
rs63751438 		0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.900 1.000 12 1999 2019
dbSNP: rs242557
rs242557 		0.752 0.200 17 45942346 intron variant G/A snv 0.36
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.860 1.000 8 2010 2019
dbSNP: rs63750570
rs63750570 		0.827 0.120 17 46018629 missense variant G/A snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.850 1.000 26 1998 2017
dbSNP: rs63750349
rs63750349 		0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.830 1.000 23 1998 2010
dbSNP: rs63751165
rs63751165 		0.925 0.120 17 46010401 missense variant G/A;T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.830 1.000 3 1999 2005
dbSNP: rs63750376
rs63750376 		0.827 0.120 17 45996657 missense variant G/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.820 0.957 23 1998 2010
dbSNP: rs63750129
rs63750129 		0.882 0.120 17 45996612 missense variant A/C snv 4.0E-06
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		Nervous System Diseases; Mental Disorders 0.820 1.000 6 1999 2008
dbSNP: rs63750512
rs63750512 		0.827 0.160 17 46024010 missense variant G/A;C snv 1.2E-05
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		Nervous System Diseases; Mental Disorders 0.820 1.000 6 1999 2002
dbSNP: rs63750711
rs63750711 		0.925 0.120 17 46018645 missense variant A/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.810 1.000 21 1998 2010
dbSNP: rs63750635
rs63750635 		0.851 0.120 17 46014286 missense variant C/T snv
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		Nervous System Diseases; Mental Disorders 0.810 1.000 5 1999 2002
dbSNP: rs8070723
rs8070723 		0.851 0.240 17 46003698 intron variant A/G snv 0.18
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.810 1.000 2 2011 2016
dbSNP: rs63751264
rs63751264 		0.925 0.120 17 46018726 missense variant A/T snv
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		Nervous System Diseases; Mental Disorders 0.810 1.000 1 2001 2001
dbSNP: rs63750092
rs63750092 		0.882 0.120 17 46014277 missense variant A/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.800 1.000 20 1998 2005
dbSNP: rs63750424
rs63750424 		0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.800 1.000 12 2000 2019
dbSNP: rs63750756
rs63750756 		0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		Nervous System Diseases; Mental Disorders 0.800 1.000 11 2000 2019
dbSNP: rs63751273
rs63751273 		0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		Nervous System Diseases; Mental Disorders 0.800 1.000 11 1998 2019
dbSNP: rs8070723
rs8070723 		0.851 0.240 17 46003698 intron variant A/G snv 0.18
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.800 1.000 5 2009 2014
dbSNP: rs17564829
rs17564829 		1.000 0.080 17 45929235 intron variant T/C snv 0.14
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs1981997
rs1981997 		1.000 0.040 17 45979401 non coding transcript exon variant G/A snv 0.14
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.800 1.000 1 2013 2013
dbSNP: rs63750959
rs63750959 		0.827 0.200 17 45962351 missense variant G/A;T snv 6.0E-05
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.800 0
dbSNP: rs63751391
rs63751391 		0.882 0.120 17 46010395 missense variant G/T snv
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.800 0
dbSNP: rs63750424
rs63750424 		0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		Nervous System Diseases; Mental Disorders 0.760 1.000 6 2000 2019
dbSNP: rs1052553
rs1052553 		0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.730 0.750 4 2010 2012