rs63751438, MAPT

N. diseases: 16
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 0.776 0.120 17 46010388 missense variant C/T snv 0.900 1.000 12 1999 2019
Tauopathies
CUI: C0949664
Disease: Tauopathies
43 0.776 0.120 17 46010388 missense variant C/T snv 0.100 1.000 13 2009 2019
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.776 0.120 17 46010388 missense variant C/T snv 0.080 1.000 8 1999 2017
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.776 0.120 17 46010388 missense variant C/T snv 0.030 1.000 3 2010 2018
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.776 0.120 17 46010388 missense variant C/T snv 0.020 1.000 2 2011 2016
Dementia
CUI: C0497327
Disease: Dementia
176 0.776 0.120 17 46010388 missense variant C/T snv 0.020 1.000 2 2011 2018
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.776 0.120 17 46010388 missense variant C/T snv 0.020 1.000 2 2010 2016
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.776 0.120 17 46010388 missense variant C/T snv 0.020 1.000 2 2014 2019
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.776 0.120 17 46010388 missense variant C/T snv 0.020 1.000 2 2003 2007
Corticobasal degeneration
CUI: C0393570
Disease: Corticobasal degeneration
14 0.776 0.120 17 46010388 missense variant C/T snv 0.010 1.000 1 1999 1999
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.776 0.120 17 46010388 missense variant C/T snv 0.010 1.000 1 2008 2008
Heartburn
CUI: C0018834
Disease: Heartburn
5 0.776 0.120 17 46010388 missense variant C/T snv 0.010 1.000 1 2018 2018
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.776 0.120 17 46010388 missense variant C/T snv 0.010 1.000 1 2018 2018
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.776 0.120 17 46010388 missense variant C/T snv 0.010 1.000 1 2018 2018
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.776 0.120 17 46010388 missense variant C/T snv 0.010 1.000 1 2011 2011
Seizures
CUI: C0036572
Disease: Seizures
553 0.776 0.120 17 46010388 missense variant C/T snv 0.010 1.000 1 2018 2018