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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
0.710 | 1.000 | 2 | 2010 | 2016 | |||||||
|
0.925 | 0.080 | 5 | 40415509 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 10 | 6131814 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 8 | 128192327 | regulatory region variant | A/- | delins | 0.29 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 6 | 32634619 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 10 | 89023070 | intergenic variant | A/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 10 | 8049414 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 18 | 12805389 | intron variant | G/A | snv | 8.0E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 4 | 122571262 | intergenic variant | T/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 3 | 187970052 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 10 | 62834404 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 1 | 157699203 | intron variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 16 | 11067358 | intron variant | T/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 11 | 46328319 | upstream gene variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 19 | 17047335 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 6 | 135386348 | intron variant | C/T | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 2 | 213196729 | intergenic variant | A/G | snv | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 17 | 39850080 | intron variant | C/T | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 3 | 122081640 | intron variant | A/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 7 | 22731537 | missense variant | C/G;T | snv | 4.4E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.776 | 0.280 | 2 | 162268127 | missense variant | T/C | snv | 1.1E-02 | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 19 | 18072286 | stop gained | G/A | snv | 1.2E-05 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 11 | 46410310 | missense variant | C/T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |