| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1000223 | intron variant | G/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 100037758 | downstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
10 | 100043668 | intron variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 100045685 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 100046495 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 100060318 | intron variant | C/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 10 | 100069757 | missense variant | C/T | snv | 4.2E-02 | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
12 | 10007469 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
10 | 100130207 | intron variant | C/T | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 100143015 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 100295525 | regulatory region variant | C/G | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 1003210 | non coding transcript exon variant | G/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 100346740 | splice region variant | T/C | snv | 0.76 | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
7 | 100358813 | missense variant | T/A;C;G | snv | 4.3E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 100360372 | intron variant | AG/- | delins | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 10037011 | intron variant | G/A;T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 100494172 | 3 prime UTR variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
7 | 100624226 | intron variant | C/T | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 100638579 | intron variant | G/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 100671047 | intron variant | T/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 100706960 | regulatory region variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
14 | 100709998 | regulatory region variant | G/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 10079661 | intergenic variant | A/-;AA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1 | 1008088 | non coding transcript exon variant | T/C | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 100911543 | upstream gene variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |