| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 79427703 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 198099396 | intron variant | T/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 126491463 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 87829908 | intergenic variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 78448289 | intron variant | C/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 94325241 | intron variant | C/T | snv | 6.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 204607855 | intron variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 16 | 53768582 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
16 | 29915150 | non coding transcript exon variant | T/C | snv | 5.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 40835508 | intron variant | G/A | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
12 | 78379471 | intron variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
5 | 148710024 | intergenic variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 148791054 | intron variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 142280097 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 100370502 | non coding transcript exon variant | A/C | snv | 0.78 | 0.75 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 5 | 56078195 | intron variant | TT/- | del | 8.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
3 | 35742043 | intron variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 51703026 | intron variant | T/C | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 61541286 | upstream gene variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 165408506 | regulatory region variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 50865617 | non coding transcript exon variant | T/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 119402824 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
14 | 29311972 | intron variant | C/T | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |