| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 44907291 | non coding transcript exon variant | A/G | snv | 7.1E-03 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1.000 | 0.080 | 11 | 61811991 | intron variant | A/G | snv | 0.40 | 0.28 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
10 | 5212884 | intron variant | A/G | snv | 0.11 |
|
0.800 | 1.000 | 2 | 2013 | 2017 | ||||||||||
|
4 | 87097839 | intron variant | A/G | snv | 0.35 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
1.000 | 0.080 | 2 | 21003688 | intron variant | A/G | snv | 0.76 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
20 | 45956781 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
8 | 9326086 | non coding transcript exon variant | A/G | snv | 0.89 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
4 | 3471412 | intron variant | A/G | snv | 0.49 |
|
0.800 | 1.000 | 2 | 2013 | 2017 | ||||||||||
|
2 | 20985339 | regulatory region variant | A/G | snv | 0.23 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||||
|
16 | 56959974 | upstream gene variant | A/G | snv |
|
0.700 | 1.000 | 2 | 2015 | 2018 | |||||||||||
|
0.882 | 0.120 | 16 | 56951227 | regulatory region variant | A/G | snv | 0.55 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
4 | 163324702 | 3 prime UTR variant | A/G | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 101025798 | intron variant | A/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 238975165 | regulatory region variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.080 | 17 | 59946963 | 3 prime UTR variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
11 | 122327998 | intron variant | A/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 76996050 | intron variant | A/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 113552405 | intergenic variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 62024805 | intergenic variant | A/G | snv | 7.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 112150963 | 3 prime UTR variant | A/G | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 10 | 132645884 | missense variant | A/G | snv | 0.22 | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
19 | 46294033 | upstream gene variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 56564125 | intron variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 7 | 73442719 | splice region variant | A/G | snv | 0.16 | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |