MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Corticobasal degeneration ×
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: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs242557
rs242557 		0.752 0.200 17 45942346 intron variant G/A snv 0.36
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs63750424
rs63750424 		0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration 		Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs63751438
rs63751438 		0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration 		Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs777148159
rs777148159 		1.000 0.040 17 46024073 missense variant A/C snv 1.2E-05
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs9468
rs9468 		0.882 0.080 17 46024197 3 prime UTR variant T/C snv 0.15 0.14
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration 		Nervous System Diseases 0.010 1.000 1 2012 2012