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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.900 | 1.000 | 39 | 1998 | 2019 | |||||||
|
0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.900 | 1.000 | 35 | 1998 | 2019 | ||||||||
|
0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.900 | 1.000 | 12 | 1999 | 2019 | ||||||||
|
0.827 | 0.120 | 17 | 46018629 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.850 | 1.000 | 26 | 1998 | 2017 | ||||||||
|
0.851 | 0.200 | 17 | 45996638 | missense variant | C/G;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.830 | 1.000 | 23 | 1998 | 2010 | |||||||
|
0.925 | 0.120 | 17 | 46010401 | missense variant | G/A;T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.830 | 1.000 | 3 | 1999 | 2005 | ||||||||
|
0.827 | 0.120 | 17 | 45996657 | missense variant | G/T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.820 | 0.957 | 23 | 1998 | 2010 | ||||||||
|
0.925 | 0.120 | 17 | 46018645 | missense variant | A/T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.810 | 1.000 | 21 | 1998 | 2010 | ||||||||
|
0.882 | 0.120 | 17 | 46014277 | missense variant | A/T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 20 | 1998 | 2005 | ||||||||
|
0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 12 | 2000 | 2019 | |||||||
|
0.851 | 0.120 | 17 | 46010373 | missense variant | A/C | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.720 | 1.000 | 21 | 1998 | 2017 | ||||||||
|
0.827 | 0.200 | 17 | 45962351 | missense variant | G/A;T | snv | 6.0E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.710 | 1.000 | 2 | 2002 | 2010 | |||||||
|
0.925 | 0.120 | 17 | 46010418 | intron variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 11 | 1998 | 2016 | ||||||||
|
1.000 | 0.120 | 17 | 46010403 | splice donor variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 46018672 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 46010415 | intron variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 17 | 46014286 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 46010375 | synonymous variant | T/C | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 46010416 | intron variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 46010413 | intron variant | T/C | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.040 | 1.000 | 4 | 2014 | 2018 | |||||||
|
0.925 | 0.120 | 17 | 45971888 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.925 | 0.120 | 17 | 45983258 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | 17 | 45983724 | missense variant | T/G | snv | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.120 | 17 | 45983865 | missense variant | C/T | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2003 | 2003 |