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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 42348680 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 25678644 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 6258395 | non coding transcript exon variant | T/C | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 6399573 | intergenic variant | C/G | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 221106893 | regulatory region variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 217281385 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 7 | 114420608 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
7 | 150815084 | regulatory region variant | T/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
7 | 33212340 | intron variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 20676586 | intron variant | A/C | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 32745115 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 46956794 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 8070845 | non coding transcript exon variant | G/A | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 27469589 | intergenic variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 30916874 | intron variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 119583783 | missense variant | A/G;T | snv | 0.96 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 28149464 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1 | 150846616 | intron variant | T/A | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 39105299 | intron variant | A/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 134638240 | intron variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
2 | 28150685 | intron variant | A/G | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 51204794 | intergenic variant | A/G | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 19480257 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
19 | 46464655 | downstream gene variant | T/C | snv | 0.98 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 15337087 | upstream gene variant | G/A | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |