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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 17 | 45974480 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 |
|
Nervous System Diseases | 0.720 | 1.000 | 4 | 2008 | 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 | 45979401 | non coding transcript exon variant | G/A | snv | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 2009 | 2012 | |||||||
|
1.000 | 0.040 | 17 | 45949373 | intron variant | G/A | snv | 0.35 |
|
Nervous System Diseases | 0.020 | 0.500 | 2 | 2009 | 2014 | |||||||
|
1.000 | 0.040 | 17 | 45981562 | intron variant | G/A | snv | 0.30 |
|
Nervous System Diseases | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 17 | 45977067 | non coding transcript exon variant | A/G | snv | 0.81 |
|
Nervous System Diseases | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 17 | 46028029 | 3 prime UTR variant | A/C;G | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.752 | 0.200 | 17 | 45942346 | intron variant | G/A | snv | 0.36 |
|
Nervous System Diseases | 0.060 | 1.000 | 6 | 2010 | 2017 | |||||||
|
0.827 | 0.200 | 17 | 45996523 | synonymous variant | A/G | snv | 0.14 | 0.15 |
|
Nervous System Diseases | 0.730 | 0.750 | 4 | 2010 | 2012 | ||||||
|
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 | ||||||
|
1.000 | 0.040 | 17 | 45996618 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1.000 | 0.040 | 17 | 46023990 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 17 | 45913553 | intron variant | A/G | snv | 0.14 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 17 | 45920006 | intron variant | T/C | snv | 0.14 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 17 | 45934459 | intron variant | A/C | snv | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.160 | 17 | 45900461 | intron variant | C/T | snv | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 17 | 46006036 | intron variant | G/A | snv | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 17 | 45994485 | intron variant | G/A | snv | 0.40 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 17 | 45916010 | intron variant | T/G | snv | 0.40 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 17 | 45896132 | non coding transcript exon variant | T/G | snv | 0.30 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 17 | 45921456 | intron variant | A/G | snv | 0.14 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
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 | ||||||
|
0.925 | 0.120 | 17 | 45990034 | missense variant | T/C | snv | 0.15 | 0.15 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1.000 | 0.040 | 17 | 45990316 | intron variant | G/A | snv | 0.15 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 |