| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 104903754 | 5 prime UTR variant | -/C | delins | 0.10 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
22 | 38205423 | 5 prime UTR variant | -/CTC | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 65057022 | intron variant | -/GTGGATGCAGCAG;TGGATGCAGCAG;TGGATGCGGCAG;TGTATGCAGCAG | delins | 0.45 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 46291277 | intergenic variant | -/T | delins | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 20998163 | downstream gene variant | A/C | snv | 0.76 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
12 | 106780868 | intron variant | A/C | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||||
|
15 | 86311359 | intron variant | A/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.040 | 11 | 116746524 | downstream gene variant | A/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
22 | 25623573 | intron variant | A/C | snv | 2.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 117072638 | intron variant | A/C | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
21 | 34484464 | intron variant | A/C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
4 | 172722489 | intron variant | A/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
20 | 52395625 | intron variant | A/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 16896136 | non coding transcript exon variant | A/C | snv | 6.6E-03 | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
11 | 117214554 | non coding transcript exon variant | A/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.827 | 0.120 | 9 | 104899461 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1 | 219561618 | downstream gene variant | A/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 44166307 | intron variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
2 | 68380846 | missense variant | A/C | snv | 6.7E-03 | 1.9E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
21 | 25924954 | intron variant | A/C | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 44118647 | intron variant | A/C | snv | 0.97 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 107436774 | synonymous variant | A/C | snv | 0.99 | 0.95 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
2 | 218436132 | intron variant | A/C | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
5 | 75440240 | intron variant | A/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2009 | 2009 |