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 | 0.200 | 6 | 32332045 | stop gained | G/A | snv | 0.19 | 0.23 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.200 | 6 | 31635190 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 11 | 34759389 | intergenic variant | T/C | snv | 0.39 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.240 | 6 | 27566749 | intergenic variant | A/G | snv | 5.4E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.200 | 6 | 31642752 | non coding transcript exon variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 184680369 | intergenic variant | C/A | snv | 9.4E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 6 | 27592808 | upstream gene variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 15 | 38472642 | intron variant | C/T | snv | 9.3E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.280 | 6 | 31635993 | synonymous variant | A/G | snv | 0.14 | 0.17 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 17 | 39453870 | upstream gene variant | T/C | snv | 0.16 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 20 | 49958778 | downstream gene variant | C/T | snv | 3.6E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.160 | 6 | 28744886 | intergenic variant | A/G | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.280 | 6 | 29569447 | intron variant | A/G | snv | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 6 | 28662914 | intergenic variant | G/A | snv | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 6 | 27847861 | intron variant | A/G | snv | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 6 | 26463432 | missense variant | G/A | snv | 5.7E-02 | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.200 | 6 | 28289600 | intron variant | T/C | snv | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 6 | 28275017 | intron variant | A/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.360 | 6 | 32945469 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.160 | 6 | 31005088 | regulatory region variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.160 | 6 | 27842848 | intron variant | T/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.200 | 6 | 32082290 | missense variant | T/A;C;G | snv | 8.2E-06; 0.58; 4.1E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 6 | 27869489 | upstream gene variant | T/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2014 | 2014 |