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.
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
43 0.645 0.280 17 46010389 missense variant C/T snv 0.100 0.952 21 2001 2020
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
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
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
Dementia
CUI: C0497327
Disease: Dementia
176 0.645 0.280 17 46010389 missense variant C/T snv 0.050 1.000 5 1999 2017
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
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
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.645 0.280 17 46010389 missense variant C/T snv 0.040 1.000 4 2017 2020
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
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.645 0.280 17 46010389 missense variant C/T snv 0.030 1.000 3 2016 2019
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
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
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.645 0.280 17 46010389 missense variant C/T snv 0.020 1.000 2 2016 2019
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.645 0.280 17 46010389 missense variant C/T snv 0.020 1.000 2 2016 2019
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.645 0.280 17 46010389 missense variant C/T snv 0.020 1.000 2 2016 2019
Agraphia
CUI: C0001825
Disease: Agraphia
1 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2014 2014
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
Apathy
CUI: C0085632
Disease: Apathy
9 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2018 2018
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
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
44 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2018 2018
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
47 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2017 2017
Depressed mood
CUI: C0344315
Disease: Depressed mood
269 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2018 2018
Depressive disorder
CUI: C0011581
Disease: Depressive disorder
297 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2018 2018