| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 124720306 | intron variant | -/A | delins | 0.61 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 131553246 | intron variant | -/C | delins | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 65739571 | regulatory region variant | -/CCTTTTT;CTTTTT;CTTTTTTCTTTTT | delins | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
22 | 38205423 | 5 prime UTR variant | -/CTC | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
20 | 34846312 | intron variant | -/CTTTCTTTT;CTTTT;CTTTTT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 19283081 | intron variant | -/G | ins | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 80363511 | intron variant | -/G;GT;GTT;GTTT;GTTTT | ins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
20 | 54118699 | regulatory region variant | -/T;TT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
6 | 133478448 | intron variant | -/TA;TATA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
17 | 17688488 | intron variant | -/TAATAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 54344716 | intron variant | -/TGTC | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 15172097 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 23365736 | intron variant | A/C | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1.000 | 0.080 | 13 | 71773564 | intron variant | A/C | snv | 0.51 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
15 | 53659238 | intron variant | A/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
X | 8942922 | intergenic variant | A/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 79675094 | upstream gene variant | A/C | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 177257637 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 51727173 | intergenic variant | A/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 55418058 | intergenic variant | A/C | snv | 6.7E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 176188698 | 5 prime UTR variant | A/C | snv | 2.5E-02 | 2.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
11 | 5557328 | intron variant | A/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
22 | 40569767 | intron variant | A/C | snv | 7.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 1 | 243306367 | 3 prime UTR variant | A/C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
11 | 119096070 | upstream gene variant | A/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |