Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 1.000 12 2000 2019
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.760 1.000 6 2000 2019
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.080 1.000 8 2002 2019
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.070 1.000 7 2002 2018
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.040 1.000 4 2003 2014
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.030 1.000 3 2014 2018
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0497327
Disease: Dementia
Dementia 		0.030 1.000 3 2003 2014
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		0.020 1.000 2 2000 2015
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.020 1.000 2 2002 2018
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.020 1.000 2 1999 2018
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.010 1.000 1 2005 2005
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 1.000 1 2013 2013
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		0.010 1.000 1 2008 2008
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.010 1.000 1 2014 2014
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 1.000 1 2013 2013
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0751071
Disease: Familial Dementia
Familial Dementia 		0.010 1.000 1 2008 2008
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.010 1.000 1 2005 2005
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0751295
Disease: Memory Loss
Memory Loss 		0.010 1.000 1 2018 2018
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0002622
Disease: Amnesia
Amnesia 		0.010 1.000 1 2018 2018
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		0.010 1.000 1 2018 2018
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C1405458
Disease: Language Problems
Language Problems 		0.010 1.000 1 2008 2008
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration 		0.010 1.000 1 1999 1999
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0003467
Disease: Anxiety
Anxiety 		0.010 1.000 1 2005 2005
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.010 1.000 1 2005 2005
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 1.000 1 2005 2005