MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Primary Progressive Aphasia (disorder) ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs143624519
rs143624519 		0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs63750512
rs63750512 		0.827 0.160 17 46024010 missense variant G/A;C snv 1.2E-05
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017