| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.040 | 20 | 58078668 | regulatory region variant | -/A | delins | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 16 | 56963437 | intron variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.040 | 9 | 70823689 | intron variant | -/C;CC | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.040 | 17 | 28322698 | intron variant | A/C | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 9 | 104899461 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.040 | 6 | 32187804 | intron variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.080 | 1 | 196735502 | intron variant | C/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 18 | 77147088 | regulatory region variant | C/A | snv | 0.63 |
|
0.710 | 1.000 | 1 | 2012 | 2014 | ||||||||
|
0.827 | 0.040 | 12 | 55721994 | 3 prime UTR variant | C/A | snv | 0.19 | 0.16 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.040 | 16 | 75200974 | downstream gene variant | C/A | snv | 6.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 1 | 196989521 | intron variant | C/G;T | snv | 4.6E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 |
|
0.760 | 1.000 | 1 | 2006 | 2018 | |||||||
|
0.851 | 0.040 | 7 | 105115879 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.040 | 4 | 109764664 | missense variant | C/T | snv | 4.2E-04 | 3.9E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.040 | 1 | 196411028 | intron variant | C/T | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 1 | 196737512 | synonymous variant | C/T | snv | 1.0E-02 | 8.6E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.040 | 14 | 68302482 | intron variant | C/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 3 | 64729479 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 17 | 81559795 | intron variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 19 | 1031439 | intron variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 7 | 100393925 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 22 | 38080269 | intron variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.040 | 6 | 43858890 | TF binding site variant | C/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |