| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 82910808 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
3 | 188269895 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 20329377 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
8 | 20981609 | intron variant | C/G | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 81855961 | regulatory region variant | G/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 23391045 | intron variant | G/C | snv | 2.7E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 29812253 | downstream gene variant | G/- | delins | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 81777764 | intergenic variant | T/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 48358735 | intron variant | C/T | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 61513935 | intergenic variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 57067427 | intron variant | C/A;T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 170594457 | intron variant | AA/- | del | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 126538306 | intron variant | T/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 166938616 | missense variant | C/A;G;T | snv | 0.18; 4.1E-06; 6.6E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1 | 82804287 | intron variant | G/A | snv | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1 | 182336514 | downstream gene variant | AA/-;A;AAA | delins | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
13 | 31486393 | upstream gene variant | G/A | snv | 8.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 22725625 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
20 | 2163705 | intron variant | -/C | ins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
22 | 44244728 | 3 prime UTR variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
3 | 11608090 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |