rs143624519, MAPT

N. diseases: 17
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.
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.080 0.875 8 2012 2019
Tauopathies
CUI: C0949664
Disease: Tauopathies
43 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.060 1.000 6 2011 2019
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.040 1.000 4 2014 2018
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.030 0.667 3 2012 2019
Progressive supranuclear palsy
CUI: C0038868
Disease: Progressive supranuclear palsy
52 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.030 1.000 3 2012 2019
Frontotemporal Lobar Degeneration
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
54 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.020 1.000 2 2017 2019
GRN-related frontotemporal dementia
CUI: C3811918
Disease: GRN-related frontotemporal dementia
20 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.020 1.000 2 2017 2019
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
41 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.020 1.000 2 2015 2019
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.020 1.000 2 2014 2018
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
124 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2015 2015
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2018 2018
Corticobasal degeneration
CUI: C0393570
Disease: Corticobasal degeneration
14 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2019 2019
Deuteranomaly
CUI: C3887938
Disease: Deuteranomaly
10 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2019 2019
Lafora Disease
CUI: C0751783
Disease: Lafora Disease
32 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2015 2015
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2016 2016
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2012 2012
Primary Progressive Aphasia (disorder)
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
11 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2019 2019