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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 28130254 | upstream gene variant | -/T | delins | 0.58 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1 | 221030957 | regulatory region variant | A/C | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
6 | 34221115 | downstream gene variant | A/C | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
19 | 40603069 | intron variant | A/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.827 | 0.080 | 1 | 196710325 | intron variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
6 | 139950220 | intron variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 119361783 | intron variant | A/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 158523978 | intron variant | A/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 56380190 | regulatory region variant | A/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 104896266 | intron variant | A/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 55899240 | intron variant | A/C | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 45229181 | 3 prime UTR variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
3 | 8887207 | intron variant | A/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 56176872 | intron variant | A/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 88933016 | intron variant | A/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 62474494 | intron variant | A/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 52501410 | upstream gene variant | A/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 221457213 | regulatory region variant | A/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 125472234 | intron variant | A/C | snv | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 226940103 | intron variant | A/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 128511972 | intron variant | A/C | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 232576992 | intron variant | A/C | snv | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 24103309 | intergenic variant | A/C | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 63827978 | intron variant | A/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 97884061 | intron variant | A/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |