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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 142698150 | upstream gene variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
10 | 3539029 | intron variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
9 | 111150273 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 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 | |||||||||||
|
8 | 25607174 | intron variant | G/T | snv | 0.49 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
2 | 9558061 | upstream gene variant | T/C | snv | 0.63 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
2 | 111496274 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
11 | 823586 | missense variant | C/G;T | snv | 8.9E-03; 8.3E-06 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
10 | 27615392 | regulatory region variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
7 | 26357619 | intron variant | C/A | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
0.925 | 0.080 | 21 | 34221526 | intron variant | G/A | snv | 9.2E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
5 | 142593936 | 3 prime UTR variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
7 | 73623036 | intron variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
2 | 157556189 | missense variant | T/G | snv | 5.9E-03 | 6.0E-03 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
11 | 64237251 | intron variant | G/A;C;T | snv | 3.6E-05; 3.7E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
3 | 150348753 | regulatory region variant | T/A | snv | 3.8E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
18 | 55778699 | non coding transcript exon variant | T/C | snv | 0.54 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
13 | 110280016 | intron variant | T/C | snv | 0.55 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
6 | 160348779 | synonymous variant | C/G;T | snv | 0.45 | 0.50 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
9 | 109821274 | intron variant | A/G | snv | 0.33 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
10 | 62122923 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
11 | 10899965 | intron variant | A/G | snv | 0.73 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
19 | 55487775 | upstream gene variant | C/G | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2019 | 2019 |