| 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 | 0.040 | 20 | 158532 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 20 | 158768 | splice region variant | G/A | snv | 0.37 | 0.29 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 20 | 157292 | upstream gene variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 20 | 158935 | missense variant | C/A;T | snv | 0.37; 2.4E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 20 | 157914 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 20 | 157484 | 5 prime UTR variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 20 | 157507 | 5 prime UTR variant | C/T | snv | 0.38 | 0.30 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 20 | 159200 | downstream gene variant | A/T | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 20 | 159104 | 3 prime UTR variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 20 | 159445 | downstream gene variant | G/A | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 20 | 159639 | downstream gene variant | C/T | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 20 | 157363 | upstream gene variant | G/C | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 20 | 157819 | intron variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 20 | 157259 | upstream gene variant | T/G | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |