rs63750512, MAPT

N. diseases: 6
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.
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.827 0.160 17 46024010 missense variant G/A;C snv 1.2E-05 0.820 1.000 6 1999 2002
Tauopathies
CUI: C0949664
Disease: Tauopathies
43 0.827 0.160 17 46024010 missense variant G/A;C snv 1.2E-05 0.020 1.000 2 1999 2000
Dementia
CUI: C0497327
Disease: Dementia
176 0.827 0.160 17 46024010 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2000 2000
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.827 0.160 17 46024010 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2008 2008
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.827 0.160 17 46024010 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2000 2000
Primary Progressive Aphasia (disorder)
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
11 0.827 0.160 17 46024010 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2017 2017