| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 121804281 | intergenic variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 1410616 | non coding transcript exon variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 2 | 215435759 | missense variant | T/A | snv | 0.76 | 0.79 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
11 | 117383406 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 4180628 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 43064551 | intergenic variant | G/A | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 24911140 | intron variant | T/C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 47493431 | downstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
4 | 80253438 | TF binding site variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 6 | 25864590 | intron variant | C/T | snv | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.160 | 6 | 26441412 | intron variant | C/T | snv | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
6 | 169187008 | upstream gene variant | G/A | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 195989106 | intron variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 11782952 | intron variant | T/- | del | 1.0E-01 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 100899019 | upstream gene variant | -/TA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
22 | 40318352 | intron variant | C/G | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 94298853 | intron variant | AAGA/- | delins | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 16269264 | intron variant | -/CTGT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
14 | 91925128 | intron variant | ATCAA/- | delins | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 2175672 | intron variant | C/A | snv | 4.1E-03 | 4.6E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
5 | 123585409 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 178856319 | missense variant | G/A | snv | 6.0E-02 | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
2 | 46129994 | intron variant | T/C | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 6567278 | regulatory region variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 92635096 | intron variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |