Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 11 | 47314769 | intron variant | A/T | snv | 0.19 |
|
0.800 | 1.000 | 3 | 2010 | 2015 | ||||||||
|
0.925 | 0.120 | 11 | 47272248 | 5 prime UTR variant | G/C | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
11 | 47291341 | intron variant | T/G | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
11 | 47325172 | intron variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
1.000 | 0.080 | 11 | 47314769 | intron variant | A/T | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
11 | 47276809 | synonymous variant | G/A | snv | 0.59 | 0.56 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
0.925 | 0.120 | 11 | 47272248 | 5 prime UTR variant | G/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 11 | 47272248 | 5 prime UTR variant | G/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 11 | 47272248 | 5 prime UTR variant | G/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 11 | 47272248 | 5 prime UTR variant | G/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
11 | 47285034 | missense variant | G/A;C | snv | 0.26; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
11 | 47289816 | intron variant | G/C;T | snv | 4.2E-06; 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 47291341 | intron variant | T/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 47312973 | intron variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 11 | 47323549 | intron variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 11 | 47323549 | intron variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
11 | 47285079 | stop gained | C/T | snv | 3.8E-02 | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
11 | 47303115 | intron variant | T/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 47303311 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 11 | 47314769 | intron variant | A/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |