| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 1277428 | intron variant | T/C | snv | 0.95 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 41884878 | intron variant | T/A | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 100186403 | intron variant | A/G | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 44062274 | non coding transcript exon variant | A/G | snv | 0.92 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
22 | 23767587 | synonymous variant | T/G | snv | 0.81 | 0.92 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 44063346 | non coding transcript exon variant | T/G | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 47972876 | missense variant | T/A | snv | 0.87 | 0.88 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 8 | 9329732 | intron variant | A/G | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
2 | 134662224 | intron variant | T/C | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 63612789 | upstream gene variant | A/G | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 48118502 | missense variant | C/A | snv | 0.85 | 0.87 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 33651665 | intron variant | G/A | snv | 0.84 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 14908994 | intron variant | G/A | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 5191997 | intron variant | G/A | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 46829583 | intron variant | T/C | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 25273938 | intron variant | G/A | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2010 | 2017 | ||||||||
|
0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
13 | 30496075 | intron variant | T/C | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 115787367 | intron variant | C/T | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 231396566 | intron variant | G/A | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 63056395 | non coding transcript exon variant | A/G | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 142093830 | regulatory region variant | A/G | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 170254018 | downstream gene variant | A/C | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 31403276 | intron variant | T/C | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |