| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.240 | 14 | 23119848 | upstream gene variant | G/A | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
1 | 198697103 | intron variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
2 | 96535945 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
1.000 | 0.080 | 3 | 12293492 | intron variant | G/A | snv | 0.59 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.800 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
8 | 144103704 | missense variant | G/A;C | snv | 7.3E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.851 | 0.120 | 2 | 241759225 | intron variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
19 | 1079960 | missense variant | G/A | snv | 5.7E-02 | 5.9E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
19 | 16316300 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
8 | 47739071 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
19 | 38409359 | 3 prime UTR variant | G/A | snv | 5.5E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
2 | 111630955 | non coding transcript exon variant | C/T | snv | 0.76 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
6 | 33573730 | 3 prime UTR variant | A/G | snv | 0.73 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
5 | 148820448 | upstream gene variant | T/C | snv | 0.59 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
6 | 42229969 | intron variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
19 | 3179519 | missense variant | C/G;T | snv | 1.3E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1.000 | 0.120 | 6 | 90246690 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
6 | 107122949 | intergenic variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 87286317 | intergenic variant | A/T | snv | 0.20 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
6 | 135110180 | regulatory region variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
22 | 24225858 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
3 | 50734193 | intron variant | G/A | snv | 9.6E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
17 | 7839283 | upstream gene variant | G/A | snv | 2.5E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
2 | 65429835 | intron variant | C/T | snv | 0.62 |
|
0.700 | 1.000 | 2 | 2016 | 2019 |