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.
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
Agraphia
CUI: C0001825
Disease: Agraphia
1 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2014 2014
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
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
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
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
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
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
Dementia
CUI: C0497327
Disease: Dementia
176 0.645 0.280 17 46010389 missense variant C/T snv 0.050 1.000 5 1999 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
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
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
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
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
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
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
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