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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 27203619 | intron variant | G/A | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 62805132 | missense variant | G/C;T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 39399374 | intron variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.882 | 0.160 | 15 | 74727108 | upstream gene variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.160 | 15 | 74735539 | intergenic variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
12 | 69585737 | 5 prime UTR variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 8 | 125487789 | intron variant | C/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
2 | 227647210 | intron variant | T/C | snv | 3.9E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 228295484 | intergenic variant | C/T | snv | 4.9E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 227011971 | intron variant | G/A | snv | 8.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 81451999 | missense variant | G/A;C | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 228266570 | intergenic variant | T/C | snv | 1.5E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
15 | 41514460 | upstream gene variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 55605384 | intron variant | A/G | snv | 0.36 | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
4 | 189848068 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
14 | 68835682 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.882 | 0.160 | 7 | 17244953 | intron variant | T/C | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 10 | 16890385 | missense variant | G/A;T | snv | 1.3E-02; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
2 | 27375230 | intron variant | T/C | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 60708054 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 16963744 | intron variant | G/A | snv | 1.7E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 2808621 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 148211605 | intron variant | G/A | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 207024356 | intergenic variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 76133928 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |