Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.040 | 1 | 247443750 | intron variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
24 | 0.672 | 0.520 | 2 | 177265309 | intron variant | T/C;G | snv | 0.89 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.040 | 19 | 11100245 | missense variant | C/G;T | snv | 2.3E-03 | 9.4E-03 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
3 | 0.882 | 0.040 | 1 | 161040847 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.040 | 1 | 161040282 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 10 | 89247582 | missense variant | C/T | snv | 9.5E-02 | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.040 | 12 | 124822507 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 16 | 81238301 | upstream gene variant | C/G | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 7 | 93525009 | intron variant | A/G;T | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.120 | 16 | 81268089 | missense variant | A/G;T | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.120 | 10 | 88643382 | regulatory region variant | A/G | snv | 1.0E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.240 | 9 | 104794495 | missense variant | T/G | snv | 2.9E-04 | 3.8E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.807 | 0.280 | 3 | 186854300 | missense variant | T/C | snv | 2.2E-02 | 2.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.752 | 0.320 | 7 | 80615623 | intron variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
19 | 0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
15 | 0.724 | 0.400 | 6 | 32182519 | intron variant | C/A | snv | 0.12 | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
46 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 24800354 | 3 prime UTR variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 |