| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 76360290 | 3 prime UTR variant | A/T | snv | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 49850619 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
5 | 72452797 | intron variant | G/A | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 62637156 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 6652974 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 44285734 | intron variant | G/A | snv | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 19675290 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 105566749 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 105218944 | intron variant | G/A | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 16 | 88502423 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
7 | 139050766 | intron variant | A/C | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 143544551 | non coding transcript exon variant | G/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 114113767 | intron variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 114113387 | intron variant | C/A | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 114086475 | intron variant | G/A | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
22 | 21627960 | upstream gene variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 102186337 | non coding transcript exon variant | C/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 28120189 | intron variant | C/A;T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 69906458 | intron variant | G/A | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 113323542 | intron variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 224426923 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 224394506 | intron variant | TT/-;T;TTT;TTTTT;TTTTTT;TTTTTTT | delins | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 49056159 | intron variant | C/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 49055156 | intron variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 99737001 | intron variant | A/T | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |