| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 3402268 | intron variant | -/C;CC | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 52849688 | intron variant | -/CT;CTT | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 46127912 | intron variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2012 | 2017 | ||||||||||
|
17 | 59748211 | intron variant | A/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
7 | 100537063 | upstream gene variant | A/C | snv | 5.5E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 2050557 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
21 | 15205839 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
11 | 47866484 | intergenic variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
6 | 44062274 | non coding transcript exon variant | A/G | snv | 0.92 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
2 | 46126027 | intron variant | A/G | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.120 | 15 | 76001630 | intron variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
15 | 76006403 | intron variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 40760574 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 134684558 | intron variant | A/G | snv | 1.9E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
14 | 21074607 | missense variant | A/G | snv | 0.16 | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
13 | 28656444 | upstream gene variant | A/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 45733706 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 46803224 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 115521531 | intron variant | A/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 100642673 | intron variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.851 | 0.120 | 15 | 58435126 | non coding transcript exon variant | A/G | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |