| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 50433390 | splice acceptor variant | TTTTTTTT/-;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT | delins | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 54012825 | intron variant | TT/-;T;TTT | delins | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 94325616 | upstream gene variant | TT/- | del | 1.2E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
15 | 43382233 | intron variant | TAAAAGAAAAA/-;TAAAAGAAAAATAAAAGAAAAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
7 | 73584775 | intergenic variant | T/G | snv | 0.16 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
1 | 62584927 | intron variant | T/G | snv | 0.33 | 0.34 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
1 | 62658794 | intron variant | T/G | snv | 0.34 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 2 | 20983311 | regulatory region variant | T/G | snv | 0.27 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
11 | 78387968 | intron variant | T/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 82059993 | missense variant | T/G | snv | 3.3E-04 | 1.5E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
8 | 19972659 | regulatory region variant | T/G | snv | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 4764689 | intergenic variant | T/G | snv | 3.6E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
3 | 142938363 | non coding transcript exon variant | T/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 125472284 | intron variant | T/G | snv | 0.76 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
17 | 78381401 | intron variant | T/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 156953056 | intron variant | T/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 7223837 | intron variant | T/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 230171476 | intron variant | T/G | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
X | 110473179 | intron variant | T/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 110145794 | intron variant | T/G | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 19 | 2008 | 2019 | |||||||
|
7 | 73448919 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
8 | 20076385 | upstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
7 | 25952206 | upstream gene variant | T/C;G | snv |
|
0.800 | 1.000 | 2 | 2013 | 2019 |