MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
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: rs63750869
rs63750869
0.827 0.160 17 46018707 missense variant G/A snv 2.4E-05 5.6E-05
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs63751273
rs63751273
0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011