| 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 | 19402761 | intron variant | G/T | snv | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 72371807 | intron variant | C/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 60208994 | intergenic variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 45676926 | intron variant | C/T | snv | 0.18 | 0.17 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
7 | 75533848 | 3 prime UTR variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 25260101 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 8116712 | intergenic variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 131285034 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 66544868 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
22 | 20154990 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
12 | 123920171 | intron variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
16 | 28837347 | upstream gene variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
3 | 72406204 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1 | 78212446 | intergenic variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
13 | 53528071 | intron variant | G/A;T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
3 | 172204265 | intron variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
4 | 45177866 | intergenic variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 118310352 | regulatory region variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
14 | 29267632 | non coding transcript exon variant | C/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 6738122 | intron variant | C/T | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 25263901 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
3 | 138385085 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
3 | 52615732 | intron variant | A/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 162612318 | intron variant | A/G | snv | 8.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 75529546 | intergenic variant | A/C | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |