rs63750756, MAPT

N. diseases: 23
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 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.900 1.000 39 1998 2019
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.800 1.000 11 2000 2019
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.100 1.000 10 2000 2019
Pallidopontonigral degeneration
CUI: C0520716
Disease: Pallidopontonigral degeneration
1 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.040 1.000 4 2000 2007
Dementia
CUI: C0497327
Disease: Dementia
176 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.030 1.000 3 1999 2015
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.030 1.000 3 1999 2015
Tauopathies
CUI: C0949664
Disease: Tauopathies
43 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.030 1.000 3 1999 2007
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.020 1.000 2 2003 2005
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.020 1.000 2 2005 2012
Supranuclear paralysis
CUI: C0270920
Disease: Supranuclear paralysis
1 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.020 1.000 2 1999 2002
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2010 2010
Autonomic nervous system disorders
CUI: C1145628
Disease: Autonomic nervous system disorders
7 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2002 2002
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
47 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2005 2005
Dysautonomia
CUI: C0013363
Disease: Dysautonomia
18 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2002 2002
Frontotemporal Lobar Degeneration
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
54 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2006 2006
Hyperkinesia
CUI: C3887506
Disease: Hyperkinesia
6 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2003 2003
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2003 2003
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2015 2015
Primary Progressive Nonfluent Aphasia
13 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2016 2016
Tremor
CUI: C0040822
Disease: Tremor
52 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2003 2003
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
76 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.700 0
Supranuclear Palsy, Progressive, 1
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
6 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.700 0
Supranuclear Palsy, Progressive, 1, Atypical
4 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.700 0