| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 144568176 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
1 | 218449297 | downstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
6 | 7719826 | regulatory region variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 55145982 | intergenic variant | A/G | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 40864433 | intron variant | C/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
19 | 40835324 | intron variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
2 | 238955452 | regulatory region variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2012 | |||||||||||
|
20 | 46858178 | upstream gene variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 198858641 | intergenic variant | G/A | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 99103206 | intergenic variant | G/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 4 | 144569207 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
14 | 86302020 | intron variant | A/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
14 | 86302021 | intron variant | G/T | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
7 | 84940194 | non coding transcript exon variant | C/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 55118292 | intergenic variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 22286197 | regulatory region variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 4134583 | intergenic variant | T/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 78733621 | intron variant | G/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
15 | 67198936 | downstream gene variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
17 | 48474867 | upstream gene variant | T/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 3 | 89027746 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
4 | 144567945 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.925 | 0.040 | 4 | 144565237 | intron variant | A/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 4 | 144567946 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
6 | 27638937 | intergenic variant | C/T | snv | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |