| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 100631600 | regulatory region variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 100635283 | intron variant | C/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 100716133 | regulatory region variant | T/C | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 100759064 | intergenic variant | C/T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 100865206 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 100980158 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 101161857 | intron variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 101173463 | downstream gene variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 10120812 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 10144128 | intron variant | T/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 101479462 | intron variant | A/C | snv | 7.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 101528455 | upstream gene variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 2 | 101699471 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
11 | 102186337 | non coding transcript exon variant | C/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 102276925 | intron variant | A/G | snv | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 10239014 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 4 | 102527974 | intron variant | A/G | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
10 | 102588937 | intron variant | T/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 102640355 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 1026478 | upstream gene variant | G/T | snv | 0.65 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
10 | 102727686 | 3 prime UTR variant | G/A;C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 102782681 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 102824025 | downstream gene variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 102916495 | intron variant | AAAAA/-;AAA;AAAA;AAAAAA;AAAAAAA;AAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
19 | 10297604 | downstream gene variant | AAA/-;A;AA;AAAA;AAAAA;AAAAAA | delins | 0.38 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |