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
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
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
Primary Progressive Nonfluent Aphasia
CUI: C0751706
Disease: Primary Progressive Nonfluent Aphasia
13 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2016 2016
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
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
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
Apathy
CUI: C0085632
Disease: Apathy
9 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2018 2018
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
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
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
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
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