| 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 | 101187569 | upstream gene variant | T/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 98766429 | intron variant | T/G | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 29955314 | upstream gene variant | T/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 40007042 | intergenic variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
11 | 308314 | missense variant | T/C;G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.080 | 5 | 135896167 | upstream gene variant | T/C;G | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
5 | 110581541 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
16 | 2778172 | non coding transcript exon variant | T/C;G | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 26447311 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
14 | 68410812 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 31235115 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 11802341 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.827 | 0.120 | 7 | 37342861 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
5 | 110716343 | intron variant | T/C;G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 2786026 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
11 | 116934348 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 31465935 | non coding transcript exon variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.080 | 2 | 102354740 | intron variant | T/C;G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
14 | 93951185 | missense variant | T/C | snv | 3.3E-02 | 3.7E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.851 | 0.040 | 10 | 62637778 | intron variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.080 | 3 | 42864624 | missense variant | T/C | snv | 5.1E-02 | 4.7E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
5 | 148820448 | upstream gene variant | T/C | snv | 0.59 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
6 | 107122949 | intergenic variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
6 | 135110180 | regulatory region variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2016 | 2019 |