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.
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
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2017 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
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
Language Disorders
CUI: C0023015
Disease: Language Disorders
25 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2016 2016
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
Mental Depression
CUI: C0011570
Disease: Mental Depression
271 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2018 2018
Mental disorders
CUI: C0004936
Disease: Mental disorders
149 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2018 2018
Mitochondrial abnormalities
CUI: C4020732
Disease: Mitochondrial abnormalities
20 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2020 2020
Motor disturbances
CUI: C2220255
Disease: Motor disturbances
1 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2019 2019
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
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
Primary Progressive Nonfluent Aphasia
13 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2016 2016
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
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