| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 |
|
0.700 | 1.000 | 4 | 2007 | 2019 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
10 | 21560840 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
16 | 11545628 | downstream gene variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
22 | 38481456 | missense variant | T/G | snv | 0.29 | 0.27 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
3 | 149493725 | intron variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.160 | 14 | 102816936 | intron variant | C/T | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
18 | 57655270 | missense variant | C/T | snv | 8.2E-02 | 8.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
8 | 11664844 | intergenic variant | G/A | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 37713312 | intron variant | C/A;T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
15 | 89804583 | missense variant | G/A | snv | 6.9E-02 | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 11 | 61825533 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
10 | 63168063 | missense variant | C/A;G;T | snv | 4.0E-06; 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.742 | 0.320 | 2 | 233693545 | missense variant | A/G | snv | 0.31 | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
19 | 47873738 | intron variant | T/C | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 4 | 150277928 | missense variant | G/A | snv | 0.20 | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
10 | 45463408 | missense variant | G/C | snv | 0.24 | 0.23 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
2 | 218282080 | missense variant | G/A | snv | 0.55 | 0.43 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
8 | 119335236 | intergenic variant | A/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 47881800 | intron variant | C/A | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
19 | 45881296 | downstream gene variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 87476479 | intron variant | T/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |