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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 17 | 45983912 | missense variant | C/T | snv | 0.15 | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.925 | 0.120 | 17 | 45996607 | synonymous variant | T/C | snv | 0.14 | 0.15 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1.000 | 0.040 | 17 | 45893296 | intron variant | G/T | snv | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 17 | 45892788 | intron variant | T/C | snv | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.240 | 17 | 46003698 | intron variant | A/G | snv | 0.18 |
|
Nervous System Diseases | 0.800 | 1.000 | 5 | 2009 | 2014 | |||||||
|
1.000 | 0.040 | 17 | 45913906 | intron variant | A/G | snv | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 4 | 2009 | 2014 | |||||||
|
1.000 | 0.040 | 17 | 45949373 | intron variant | G/A | snv | 0.35 |
|
Nervous System Diseases | 0.020 | 0.500 | 2 | 2009 | 2014 | |||||||
|
0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 17 | 46024136 | missense variant | G/A | snv | 8.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.752 | 0.200 | 17 | 45942346 | intron variant | G/A | snv | 0.36 |
|
Nervous System Diseases | 0.060 | 1.000 | 6 | 2010 | 2017 | |||||||
|
0.882 | 0.120 | 17 | 45999299 | missense variant | A/G | snv | 0.14 | 0.15 |
|
Nervous System Diseases | 0.730 | 0.750 | 4 | 2010 | 2017 | ||||||
|
0.882 | 0.160 | 17 | 45998697 | intron variant | C/T | snv | 0.18 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.790 | 0.120 | 17 | 45971879 | missense variant | A/C;G | snv | 4.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.160 | 17 | 45917282 | intron variant | C/T | snv | 0.14 |
|
Nervous System Diseases | 0.720 | 1.000 | 4 | 2014 | 2019 | |||||||
|
0.882 | 0.080 | 17 | 46024197 | 3 prime UTR variant | T/C | snv | 0.15 | 0.14 |
|
Nervous System Diseases | 0.030 | 1.000 | 3 | 2012 | 2019 |