rs63751273, MAPT

N. diseases: 42
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
76 0.645 0.280 17 46010389 missense variant C/T snv 0.700 0
Supranuclear Palsy, Progressive, 1
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
6 0.645 0.280 17 46010389 missense variant C/T snv 0.700 0
Supranuclear Palsy, Progressive, 1, Atypical
CUI: C1850077
Disease: Supranuclear Palsy, Progressive, 1, Atypical
4 0.645 0.280 17 46010389 missense variant C/T snv 0.700 0
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.645 0.280 17 46010389 missense variant C/T snv 0.900 1.000 35 1998 2019
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.645 0.280 17 46010389 missense variant C/T snv 0.800 1.000 11 1998 2019
Dementia
CUI: C0497327
Disease: Dementia
176 0.645 0.280 17 46010389 missense variant C/T snv 0.050 1.000 5 1999 2017
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.645 0.280 17 46010389 missense variant C/T snv 0.040 1.000 4 1999 2017
Tauopathies
CUI: C0949664
Disease: Tauopathies
43 0.645 0.280 17 46010389 missense variant C/T snv 0.100 0.952 21 2001 2020
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.645 0.280 17 46010389 missense variant C/T snv 0.030 1.000 3 2002 2017
Personality Change
CUI: C0240735
Disease: Personality Change
6 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2002 2002
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.645 0.280 17 46010389 missense variant C/T snv 0.080 1.000 8 2003 2019
Anxiety
CUI: C0003467
Disease: Anxiety
287 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2004 2004
Anxiety Disorders
CUI: C0003469
Disease: Anxiety Disorders
163 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2004 2004
Motor symptoms
CUI: C0426980
Disease: Motor symptoms
15 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2007 2007
Frontotemporal Lobar Degeneration
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
54 0.645 0.280 17 46010389 missense variant C/T snv 0.050 1.000 5 2008 2019
Hemispatial Neglect
CUI: C0751421
Disease: Hemispatial Neglect
1 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2011 2011
Resting Tremor
CUI: C0234379
Disease: Resting Tremor
5 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2011 2011
Semantic Dementia
CUI: C0338462
Disease: Semantic Dementia
4 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2011 2011
Memory impairment
CUI: C0233794
Disease: Memory impairment
48 0.645 0.280 17 46010389 missense variant C/T snv 0.030 1.000 3 2012 2017
Forgetful
CUI: C0542476
Disease: Forgetful
18 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2012 2012
Argyrophilic grain disease
CUI: C0338460
Disease: Argyrophilic grain disease
7 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2013 2013
Progressive supranuclear palsy
CUI: C0038868
Disease: Progressive supranuclear palsy
52 0.645 0.280 17 46010389 missense variant C/T snv 0.070 1.000 7 2014 2018
Agraphia
CUI: C0001825
Disease: Agraphia
1 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2014 2014
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
41 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2014 2014
GRN-related frontotemporal dementia
CUI: C3811918
Disease: GRN-related frontotemporal dementia
20 0.645 0.280 17 46010389 missense variant C/T snv 0.040 1.000 4 2016 2019