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 | 57182570 | downstream gene variant | G/C | snv | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2020 | 2020 | ||||||||||
|
2 | 180737799 | intron variant | C/T | snv | 0.70 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
2 | 104838132 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
2 | 24913997 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
6 | 46395820 | intron variant | C/G | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
17 | 16040596 | non coding transcript exon variant | T/C | snv | 0.60 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
11 | 2213460 | intergenic variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
8 | 31006422 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
10 | 77001201 | intron variant | C/T | snv | 0.54 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
9 | 79626053 | intron variant | A/G | snv | 6.6E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
11 | 122051879 | intron variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 39096955 | intron variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
12 | 57217502 | intron variant | A/G | snv | 5.9E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
5 | 146515831 | stop gained | G/A | snv | 5.9E-03 | 5.6E-03 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
7 | 139132447 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
8 | 27403621 | intron variant | C/G | snv | 6.7E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
8 | 23532058 | intron variant | T/C | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
0.925 | 0.040 | 9 | 84678542 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
8 | 131859361 | intergenic variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 243369971 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
1 | 62114219 | missense variant | G/A;T | snv | 4.0E-06; 5.9E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
14 | 100678259 | intron variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
6 | 41780614 | 5 prime UTR variant | A/G | snv | 0.10 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
11 | 134731118 | upstream gene variant | T/C;G | snv | 0.12 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
0.925 | 0.080 | 12 | 14260997 | regulatory region variant | G/C | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2019 | 2019 |