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 | 0.120 | 1 | 203312047 | downstream gene variant | G/C | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
3 | 71207158 | intron variant | C/T | snv | 0.17 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
18 | 63253621 | intron variant | C/T | snv | 2.1E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
5 | 88895818 | intron variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
4 | 54542832 | intergenic variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
11 | 33892021 | 5 prime UTR variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
18 | 48934533 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
1.000 | 0.040 | 8 | 125487789 | intron variant | C/G | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
17 | 81558634 | 3 prime UTR variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
5 | 1104823 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
1 | 214007378 | intron variant | A/G | snv | 0.35 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
6 | 164057356 | intergenic variant | C/A | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
5 | 1284020 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2010 | 2017 | ||||||||
|
19 | 2161322 | intron variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
8 | 21934261 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
20 | 50485053 | intergenic variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
2 | 111410354 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
1.000 | 0.040 | 7 | 1246931 | regulatory region variant | G/T | snv | 0.51 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
12 | 88424702 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
13 | 113849020 | intron variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
6 | 7232156 | intron variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
2 | 207134989 | intron variant | G/A | snv | 0.65 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.925 | 0.120 | 1 | 155208991 | missense variant | T/A | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2016 | 2019 |