| 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 | 175142624 | intron variant | -/A | ins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
7 | 27240226 | intron variant | -/AAAACA;AACA | delins | 0.91 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
15 | 41042015 | intron variant | -/C | ins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
15 | 74918801 | downstream gene variant | -/CA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
11 | 16269264 | intron variant | -/CTGT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 100899019 | upstream gene variant | -/TA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
21 | 43586730 | intron variant | A/- | delins | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 112648185 | intron variant | A/C | snv | 0.19 |
|
0.700 | 1.000 | 3 | 2011 | 2018 | ||||||||||
|
1.000 | 0.040 | 15 | 74833304 | downstream gene variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 3 | 2009 | 2018 | ||||||||
|
13 | 110307296 | 5 prime UTR variant | A/C | snv | 0.63 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||||
|
18 | 721563 | downstream gene variant | A/C | snv | 0.33 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
2 | 24907673 | intron variant | A/C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 42125427 | intergenic variant | A/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 155738667 | downstream gene variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 30084482 | intergenic variant | A/C | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
13 | 80133273 | intron variant | A/C | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 11879536 | non coding transcript exon variant | A/C | snv | 5.8E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 20043911 | intron variant | A/C | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
18 | 44562012 | intron variant | A/C | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 182449087 | intron variant | A/C | snv | 8.8E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 204559216 | downstream gene variant | A/C | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 217549107 | intron variant | A/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.040 | 2 | 72887223 | upstream gene variant | A/C | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
9 | 110436611 | intron variant | A/C | snv | 4.9E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |