MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Progressive supranuclear palsy ×
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: rs242557
rs242557 		0.752 0.200 17 45942346 intron variant G/A snv 0.36
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.860 1.000 8 2010 2019
dbSNP: rs8070723
rs8070723 		0.851 0.240 17 46003698 intron variant A/G snv 0.18
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.810 1.000 2 2011 2016
dbSNP: rs63751273
rs63751273 		0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.070 1.000 7 2014 2018
dbSNP: rs143624519
rs143624519 		0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.030 1.000 3 2012 2019
dbSNP: rs63750424
rs63750424 		0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.020 1.000 2 1999 2018
dbSNP: rs2471738
rs2471738 		0.882 0.160 17 45998697 intron variant C/T snv 0.18
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs63749855
rs63749855 		0.790 0.200 17 46014271 missense variant T/G snv
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs63751391
rs63751391 		0.882 0.120 17 46010395 missense variant G/T snv
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs762046989
rs762046989 		0.851 0.200 17 45971867 missense variant C/G snv 8.0E-06
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs762104961
rs762104961 		0.882 0.200 17 46024014 missense variant C/T snv 4.0E-06
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016