| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 11 | 67449378 | upstream gene variant | A/G | snv | 4.5E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1 | 66081201 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1 | 65942328 | intron variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.040 | 5 | 65459777 | intron variant | A/G | snv | 4.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 3 | 65175479 | intron variant | C/A | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 15 | 64355987 | splice donor variant | C/T | snv | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 6 | 64099644 | intron variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 16 | 62031776 | intron variant | TA/- | del |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 2 | 58529594 | intron variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 58492312 | intron variant | T/A | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 13 | 57974377 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 2 | 57951884 | intron variant | C/T | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 8 | 56934154 | intergenic variant | C/T | snv | 3.1E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 18 | 55748146 | intron variant | G/A | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 18 | 55629696 | intron variant | G/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 18 | 55585157 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 18 | 55537633 | intron variant | C/T | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 18 | 55497462 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 18 | 55455800 | intron variant | T/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 18 | 55431862 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 18 | 55389957 | intron variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 18 | 55271138 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 18 | 55235854 | intron variant | A/G | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 18 | 55230988 | non coding transcript exon variant | C/T | snv | 6.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 18 | 55098052 | regulatory region variant | A/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |