| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 111150273 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
15 | 41780332 | intron variant | C/G | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
10 | 93587048 | intron variant | G/C | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
6 | 34224259 | downstream gene variant | C/A | snv | 2.5E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
17 | 70450720 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
4 | 124299553 | intergenic variant | A/C | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
5 | 133076607 | intron variant | A/G | snv | 0.21 | 0.21 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
8 | 25607174 | intron variant | G/T | snv | 0.49 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
15 | 62142957 | regulatory region variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
19 | 18278325 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
3 | 33831295 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
9 | 109210391 | intron variant | T/A | snv | 0.15 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
2 | 9558061 | upstream gene variant | T/C | snv | 0.63 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
6 | 41740926 | 3 prime UTR variant | C/T | snv | 6.2E-02 | 9.5E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
8 | 127322655 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
2 | 111496274 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
11 | 823586 | missense variant | C/G;T | snv | 8.9E-03; 8.3E-06 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
10 | 27615392 | regulatory region variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
7 | 26357619 | intron variant | C/A | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
6 | 80213275 | intron variant | C/A | snv | 0.12 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
2 | 111137143 | intron variant | T/C | snv | 9.2E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
14 | 79473650 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||||
|
3 | 157079820 | upstream gene variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
3 | 12447843 | intergenic variant | T/A;G | snv |
|
0.700 | 1.000 | 2 | 2015 | 2018 | |||||||||||
|
15 | 63539785 | intron variant | G/A | snv | 0.68 |
|
0.700 | 1.000 | 2 | 2018 | 2019 |