| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 125494391 | intron variant | TTTTT/-;TT;TTT;TTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
8 | 125494391 | intron variant | TTTTT/-;TT;TTT;TTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT | delins | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
1 | 67166721 | intron variant | T/G | snv | 2.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 116787315 | non coding transcript exon variant | T/G | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 72050235 | intron variant | T/G | snv | 4.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
21 | 25900162 | intron variant | T/G | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 102017062 | intron variant | T/G | snv | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 95313808 | intron variant | T/G | snv | 6.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
17 | 78381401 | intron variant | T/G | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
4 | 186271130 | intron variant | T/G | snv | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 53246137 | 3 prime UTR variant | T/G | snv | 6.4E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 148742185 | 3 prime UTR variant | T/G | snv | 6.7E-03 | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
2 | 21040767 | intron variant | T/G | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 21028168 | intron variant | T/G | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.080 | 1 | 109278889 | downstream gene variant | T/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
5 | 75348881 | intron variant | T/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 21088669 | intergenic variant | T/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 16142666 | 3 prime UTR variant | T/G | snv | 0.95 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 44869097 | intron variant | T/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
8 | 58499507 | intron variant | T/G | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||
|
0.807 | 0.240 | 5 | 75360714 | 3 prime UTR variant | T/C;G | snv | 0.37 |
|
0.800 | 1.000 | 3 | 2010 | 2019 |