| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 155018913 | intron variant | T/C | snv | 0.24 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
6 | 43790159 | downstream gene variant | C/A | snv | 0.41 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
1 | 172377408 | intron variant | G/A | snv | 0.46 |
|
0.800 | 1.000 | 2 | 2010 | 2015 | ||||||||||
|
5 | 142698150 | upstream gene variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
22 | 35264882 | missense variant | G/C;T | snv | 8.0E-06; 0.58 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1.000 | 0.040 | 7 | 25831489 | non coding transcript exon variant | C/T | snv | 0.16 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
12 | 93698914 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
10 | 3539029 | intron variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 119004219 | upstream gene variant | C/T | snv | 0.53 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
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 | ||||||||||
|
0.882 | 0.040 | 17 | 42262061 | intron variant | T/A;C | snv | 0.36 |
|
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 | ||||||||||
|
0.925 | 0.200 | 19 | 2176587 | intron variant | A/G | snv | 0.46 |
|
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 | ||||||||||
|
0.882 | 0.080 | 17 | 17640408 | regulatory region variant | G/A | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2018 | 2019 |