| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 5 | 141945684 | synonymous variant | T/C;G | snv | 0.98; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 2 | 46505266 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 1 | 208936211 | intergenic variant | T/C | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 18 | 68832311 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 2 | 234306004 | regulatory region variant | G/A | snv | 7.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 12 | 130827204 | missense variant | A/C | snv | 1.4E-02 | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 2 | 39936810 | intron variant | AT/-;ATAT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 12 | 30661250 | missense variant | T/C | snv | 3.0E-04 | 9.1E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 1 | 17669971 | intron variant | G/A | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.040 | 11 | 2301859 | start lost | C/T | snv | 1.0E-02 | 9.6E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 7 | 125615031 | intergenic variant | CA/- | delins | 1.0E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.080 | 7 | 100701361 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 7 | 100689872 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 20 | 9448697 | intron variant | A/G | snv | 9.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 9 | 26133810 | intergenic variant | C/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.080 | 3 | 52781889 | intron variant | T/C | snv | 0.49 | 0.54 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.040 | 13 | 55819766 | intergenic variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 14 | 59578879 | upstream gene variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 4 | 187800358 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.040 | 7 | 1997034 | intron variant | T/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.040 | 18 | 23164290 | intron variant | C/A | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 7 | 100715797 | upstream gene variant | A/G | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 9 | 108863349 | missense variant | C/G | snv | 2.3E-02 | 2.2E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 4 | 178642661 | intergenic variant | G/A | snv | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |