| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 54528005 | intergenic variant | C/T | snv | 0.18 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | ||||||||||
|
6 | 139517282 | intron variant | C/A | snv | 0.41 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||||
|
12 | 4223312 | intergenic variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2012 | 2017 | ||||||||||
|
1 | 117708521 | regulatory region variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 198626376 | intergenic variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2010 | 2017 | |||||||||||
|
1 | 154318779 | upstream gene variant | G/C | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1.000 | 0.120 | 1 | 203312047 | downstream gene variant | G/C | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
4 | 54542832 | intergenic variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
7 | 17774912 | intergenic variant | G/A | snv | 0.58 |
|
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 | ||||||||
|
5 | 154655677 | intergenic variant | C/T | snv | 7.4E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
12 | 53366378 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
6 | 139519556 | intron variant | A/C | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
20 | 57416581 | regulatory region variant | A/G | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
20 | 50470475 | intergenic variant | G/A | snv | 0.47 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
18 | 46276334 | intergenic variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
10 | 63156891 | downstream gene variant | C/A | snv | 6.0E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
20 | 57415349 | regulatory region variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
7 | 93053295 | regulatory region variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
19 | 18302251 | downstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
14 | 103380462 | upstream gene variant | C/T | snv | 7.9E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
19 | 33263642 | intergenic variant | C/T | snv | 6.8E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
9 | 4757649 | intron variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 14 | 74980176 | regulatory region variant | C/G | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
7 | 47594213 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |