| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 113078771 | downstream gene variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
2 | 113080188 | downstream gene variant | T/G | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 113080525 | downstream gene variant | G/A | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 113080568 | downstream gene variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.080 | 2 | 113083453 | upstream gene variant | A/G | snv | 0.39 |
|
0.800 | 1.000 | 5 | 2011 | 2019 | ||||||||
|
3 | 115407022 | intron variant | G/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 115992768 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 115993471 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
8 | 115995625 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
8 | 116064090 | intron variant | G/A | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 116176655 | intron variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 116792862 | synonymous variant | G/A | snv | 0.33 | 0.29 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
8 | 11807229 | intron variant | C/G;T | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 11808942 | intron variant | C/G;T | snv | 9.8E-06; 0.58 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 11919395 | downstream gene variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 120657369 | intron variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 120856311 | intergenic variant | G/T | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 120942741 | intron variant | T/C | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
0.925 | 0.160 | 12 | 120965129 | intron variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
0.882 | 0.160 | 12 | 120965921 | splice region variant | G/A | snv | 0.59 |
|
0.800 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
1.000 | 0.080 | 12 | 120966781 | intron variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
12 | 120967323 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2013 | |||||||||||
|
12 | 120967407 | intron variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2012 | 2013 | ||||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |