| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 100203265 | intron variant | G/T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 100276321 | non coding transcript exon variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
14 | 100286307 | intron variant | A/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 100342807 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
6 | 100443115 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 100446711 | intron variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 10089306 | intron variant | C/A | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 10 | 1019770 | stop gained | C/T | snv | 5.0E-02 | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 102260843 | intron variant | T/C | snv | 7.3E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
10 | 102517336 | intron variant | G/A | snv | 8.2E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 102549866 | intergenic variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 102616435 | splice region variant | C/T | snv | 1.6E-04 | 9.1E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
4 | 102640552 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 10270805 | upstream gene variant | C/T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 102777629 | intergenic variant | G/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 102813260 | missense variant | G/A;T | snv | 8.1E-06; 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 102816113 | 3 prime UTR variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
4 | 102817815 | intron variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
4 | 102891342 | 3 prime UTR variant | A/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 103053903 | intron variant | T/C | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 103057271 | intron variant | T/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 103060542 | intron variant | TTTTTTT/-;T;TTTT;TTTTT;TTTTTT;TTTTTTTT;TTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
10 | 103283532 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 10332530 | intron variant | C/T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 103427989 | intron variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |