| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 7 | 27202041 | non coding transcript exon variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 12 | 89619312 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
7 | 2472910 | downstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||||
|
1 | 11860132 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
8 | 142979538 | downstream gene variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||||
|
7 | 27119517 | splice region variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||||
|
0.763 | 0.200 | 12 | 111494996 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
19 | 19149877 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
12 | 111280427 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
7 | 151007755 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
5 | 158392616 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 32832368 | regulatory region variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 132373185 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 45970501 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
8 | 55901862 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
15 | 74918801 | downstream gene variant | -/CA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
12 | 50116154 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
10 | 4130519 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
2 | 120682642 | downstream gene variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
10 | 18448045 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
11 | 95575690 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.851 | 0.320 | 12 | 112172910 | intron variant | G/A;C | snv | 0.30; 4.1E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
12 | 47809158 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
11 | 1873813 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |