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 | 40000459 | downstream gene variant | C/G;T | snv |
|
0.800 | 1.000 | 4 | 2011 | 2019 | |||||||||||
|
2 | 218156235 | regulatory region variant | C/T | snv | 6.9E-03 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
16 | 85982722 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
4 | 74094279 | downstream gene variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
17 | 40007042 | intergenic variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
3 | 12225304 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
1 | 161976937 | intergenic variant | A/G | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
1 | 159549102 | intergenic variant | G/A | snv | 0.84 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
4 | 74105479 | intergenic variant | G/A | snv | 0.57 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||||
|
1 | 159313100 | downstream gene variant | TTTTTTTTTTTTTT/-;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTT | delins | 7.4E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1.000 | 0.080 | 2 | 113083453 | upstream gene variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.925 | 0.040 | 2 | 181443625 | intergenic variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
1.000 | 0.080 | 17 | 40010626 | upstream gene variant | T/C | snv | 0.36 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
12 | 83706429 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
17 | 37514283 | downstream gene variant | A/C | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 61476184 | intron variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
5 | 158541893 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 44771624 | downstream gene variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 101528455 | upstream gene variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 6393666 | upstream gene variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 9746454 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 183175588 | intergenic variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
8 | 86156820 | upstream gene variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 137886592 | downstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 90152611 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |