MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Supranuclear Palsy, Progressive, 1, Atypical ×
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: rs63750424
rs63750424 		0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C1850077
Disease: Supranuclear Palsy, Progressive, 1, Atypical
Supranuclear Palsy, Progressive, 1, Atypical 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs63750756
rs63750756 		0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05
CUI: C1850077
Disease: Supranuclear Palsy, Progressive, 1, Atypical
Supranuclear Palsy, Progressive, 1, Atypical 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs63751273
rs63751273 		0.645 0.280 17 46010389 missense variant C/T snv
CUI: C1850077
Disease: Supranuclear Palsy, Progressive, 1, Atypical
Supranuclear Palsy, Progressive, 1, Atypical 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs63751392
rs63751392 		0.925 0.120 17 46010371 inframe deletion ATA/- delins
CUI: C1850077
Disease: Supranuclear Palsy, Progressive, 1, Atypical
Supranuclear Palsy, Progressive, 1, Atypical 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0