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: rs63750756
rs63750756
MAPT
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.900 1.000 39 1998 2019
dbSNP: rs63751273
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.900 1.000 35 1998 2019
dbSNP: rs63750570
rs63750570
MAPT
0.827 0.120 17 46018629 missense variant G/A snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.850 1.000 26 1998 2017
dbSNP: rs63750349
rs63750349
MAPT
0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.830 1.000 23 1998 2010
dbSNP: rs63750376
rs63750376
MAPT
0.827 0.120 17 45996657 missense variant G/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.820 0.957 23 1998 2010
dbSNP: rs63750416
rs63750416
MAPT
0.851 0.120 17 46010373 missense variant A/C snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.720 1.000 21 1998 2017
dbSNP: rs63750711
rs63750711
MAPT
0.925 0.120 17 46018645 missense variant A/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.810 1.000 21 1998 2010
dbSNP: rs63751273
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.100 0.952 21 2001 2020
dbSNP: rs63750092
rs63750092
MAPT
0.882 0.120 17 46014277 missense variant A/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 1.000 20 1998 2005
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: 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: 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: rs63750756
rs63750756
MAPT
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 1.000 11 2000 2019
dbSNP: rs63751011
rs63751011
MAPT
0.925 0.120 17 46010418 intron variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 1.000 11 1998 2016
dbSNP: rs63751273
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 1.000 11 1998 2019
dbSNP: rs63750756
rs63750756
MAPT
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.100 1.000 10 2000 2019
dbSNP: rs143624519
rs143624519
MAPT
0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.080 0.875 8 2012 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: rs63751273
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.080 1.000 8 2003 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: 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: rs63751273
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.070 1.000 7 2014 2018
dbSNP: rs143624519
rs143624519
MAPT
0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.060 1.000 6 2011 2019
dbSNP: rs63750129
rs63750129
MAPT
0.882 0.120 17 45996612 missense variant A/C snv 4.0E-06
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.820 1.000 6 1999 2008
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