| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 205770145 | intron variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
9 | 5510644 | 5 prime UTR variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
12 | 7064780 | intron variant | A/T | snv | 0.12 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
12 | 95738117 | missense variant | A/G | snv | 4.0E-06; 0.13 | 0.12 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
20 | 38345754 | upstream gene variant | G/A | snv | 0.77 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 17 | 66212167 | missense variant | C/G | snv | 4.8E-02 | 4.0E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
14 | 69888141 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
1 | 206940410 | intron variant | G/C | snv | 0.35 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 3 | 186677324 | missense variant | A/G;T | snv | 0.20; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
22 | 17188416 | missense variant | T/A;C;G | snv | 8.0E-06; 0.34; 1.2E-05 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 14 | 94284149 | missense variant | T/C | snv | 8.1E-03 | 8.1E-03 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
19 | 54338671 | missense variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
0.807 | 0.200 | 21 | 33343393 | missense variant | G/C | snv | 0.18 | 0.16 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
0.925 | 0.040 | 2 | 96739703 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
1 | 183186170 | upstream gene variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
0.732 | 0.400 | 4 | 55113391 | missense variant | C/A;T | snv | 4.0E-06; 0.11 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
19 | 51081659 | missense variant | G/A | snv | 0.32 | 0.42 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
8 | 56464222 | intron variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
0.925 | 0.080 | 19 | 10289434 | upstream gene variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
0.807 | 0.120 | 2 | 182838608 | missense variant | G/A | snv | 8.2E-02 | 8.3E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
4 | 73867169 | upstream gene variant | C/A | snv | 0.17 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
7 | 66087510 | non coding transcript exon variant | A/G | snv | 0.72 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
13 | 91770692 | intron variant | G/T | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 17 | 58270865 | splice acceptor variant | T/G | snv | 4.4E-03 | 4.6E-03 |
|
0.700 | 1.000 | 2 | 2018 | 2018 |