| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.080 | 20 | 34077942 | intron variant | A/G | snv | 0.95 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.040 | 13 | 99389484 | downstream gene variant | G/C | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.040 | 10 | 103916188 | intron variant | T/C | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.040 | 20 | 2301324 | intron variant | G/A | snv | 0.73 |
|
0.700 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.882 | 0.040 | 20 | 2302811 | intron variant | C/T | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 2 | 201288961 | intron variant | C/T | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 2 | 201300483 | intron variant | T/C | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.040 | 19 | 4837475 | upstream gene variant | A/G | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 2 | 201258272 | missense variant | A/G | snv | 0.66 | 0.65 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.040 | 2 | 201350769 | missense variant | C/G | snv | 0.62 | 0.63 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.040 | 7 | 6379042 | intron variant | T/G | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 9 | 104103411 | intron variant | G/T | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 9 | 22054691 | intron variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.882 | 0.040 | 3 | 71572518 | non coding transcript exon variant | T/A | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 8 | 97354773 | upstream gene variant | T/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 8 | 115620592 | intron variant | A/T | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 5 | 68455394 | regulatory region variant | A/C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 13 | 112879337 | intron variant | C/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.080 | 15 | 28165345 | intron variant | C/T | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.882 | 0.040 | 7 | 50136567 | intron variant | A/G | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 1 | 110181866 | intron variant | G/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 1 | 228862088 | downstream gene variant | T/G | snv | 0.48 |
|
0.700 | 1.000 | 3 | 2008 | 2015 | ||||||||
|
0.882 | 0.040 | 12 | 95986028 | intron variant | G/A | snv | 0.53 | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 3 | 2009 | 2015 |