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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 1454457 | intron variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
8 | 104966140 | intron variant | T/A | snv | 7.6E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 88866416 | intron variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
10 | 18439030 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 22 | 29057205 | 3 prime UTR variant | G/C | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 215435759 | missense variant | T/A | snv | 0.76 | 0.79 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
15 | 94768842 | intergenic variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
4 | 80253438 | TF binding site variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
15 | 66648746 | intron variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
18 | 75328421 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
16 | 24718909 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
0.925 | 0.080 | 2 | 217818431 | missense variant | A/G;T | snv | 0.62 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
15 | 40029150 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
4 | 105989801 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
12 | 20215335 | intergenic variant | T/C | snv | 0.24 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
2 | 45651621 | 5 prime UTR variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
2 | 42940738 | intergenic variant | A/C | snv | 5.7E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
3 | 154972550 | upstream gene variant | C/T | snv | 7.2E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
4 | 14878321 | intron variant | G/A | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 56397112 | intergenic variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 62258054 | regulatory region variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 71999568 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
14 | 98122398 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
14 | 99645618 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |