| 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 | 100640978 | non coding transcript exon variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 1026478 | upstream gene variant | G/T | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 102805443 | intron variant | TT/-;T;TTT;TTTT;TTTTT;TTTTTTT;TTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
14 | 103368791 | upstream gene variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
14 | 103380950 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
12 | 10458392 | upstream gene variant | T/C | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 104943373 | intron variant | TC/- | delins | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 10526140 | intron variant | T/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 107121073 | intergenic variant | A/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 108327859 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
13 | 108351457 | intron variant | C/T | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
13 | 109159737 | intron variant | -/C | delins | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
13 | 109374581 | intergenic variant | T/C | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 109892706 | upstream gene variant | G/A | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 109928142 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
13 | 110167908 | intron variant | T/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 110993295 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 110994574 | intron variant | T/C | snv | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 111033227 | intron variant | G/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 111034076 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 111078961 | intron variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
9 | 111150273 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||||
|
2 | 111153117 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
9 | 111153625 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 3 | 2011 | 2017 | ||||||||||
|
9 | 111158319 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2014 | 2014 |