| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 4 | 9942000 | missense variant | C/G;T | snv | 4.0E-05; 3.2E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
15 | 98916098 | missense variant | G/A;C | snv | 8.4E-05; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 9887580 | intron variant | G/A | snv | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 98766313 | intron variant | G/A | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.120 | 15 | 98746409 | intron variant | C/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
15 | 98733292 | intron variant | G/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 15 | 98705800 | intron variant | C/T | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
11 | 9868505 | intron variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
13 | 95648618 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
10 | 95519165 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
13 | 95415950 | intergenic variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 9439736 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 93585354 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
8 | 9315848 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
8 | 9315699 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
10 | 93085279 | intergenic variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 93079967 | downstream gene variant | G/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 93079885 | downstream gene variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
10 | 93050908 | intron variant | G/A | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 92635906 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
14 | 92605972 | intron variant | C/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 9216713 | intron variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 92166732 | intergenic variant | T/A | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 89852962 | intron variant | T/C | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 89671938 | non coding transcript exon variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |