Source: ALL

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: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.900 1.000 12 1999 2019
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.100 1.000 13 2009 2019
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.080 1.000 8 1999 2017
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 1.000 3 2010 2018
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.020 1.000 2 2011 2016
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.020 1.000 2 2010 2016
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 1.000 2 2014 2019
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.020 1.000 2 2003 2007
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0497327
Disease: Dementia
Dementia 		0.020 1.000 2 2011 2018
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2008 2008
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.010 1.000 1 2018 2018
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration 		0.010 1.000 1 1999 1999
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.010 1.000 1 2011 2011
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0018834
Disease: Heartburn
Heartburn 		0.010 1.000 1 2018 2018
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 1.000 1 2018 2018
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2018 2018