| 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 | 0.240 | 6 | 32405455 | splice region variant | G/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 10 | 110426390 | downstream gene variant | C/G;T | snv |
|
0.810 | 1.000 | 1 | 2014 | 2017 | |||||||||
|
0.925 | 0.080 | 11 | 72822491 | missense variant | C/T | snv | 7.0E-03 | 2.3E-03 |
|
0.730 | 1.000 | 1 | 2014 | 2016 | |||||||
|
0.925 | 0.120 | 11 | 73152652 | intergenic variant | A/G | snv | 2.3E-03 |
|
0.810 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 6 | 166957622 | upstream gene variant | T/C | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 6 | 166984583 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 4 | 38323415 | intergenic variant | T/C | snv | 0.15 |
|
0.810 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 6 | 33796256 | intron variant | C/T | snv | 0.37 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 9 | 114785492 | 3 prime UTR variant | T/A;C | snv |
|
0.710 | 1.000 | 1 | 2013 | 2014 | |||||||||
|
0.827 | 0.320 | 6 | 32659937 | 3 prime UTR variant | T/G | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 2 | 5523876 | intergenic variant | G/T | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 9 | 114759302 | intergenic variant | C/T | snv | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 6 | 32703326 | downstream gene variant | T/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 4 | 38334202 | intergenic variant | C/T | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 6 | 32850901 | intron variant | G/A | snv | 0.18 | 0.17 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.742 | 0.400 | 6 | 32602623 | intergenic variant | T/C | snv | 0.27 |
|
0.710 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
1.000 | 0.040 | 21 | 33424579 | intron variant | A/G | snv | 0.45 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 32713384 | upstream gene variant | G/T | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.200 | 6 | 31174468 | intron variant | C/A;T | snv | 0.68 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 9 | 114929278 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 9 | 114905163 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.400 | 6 | 32601914 | intergenic variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 22 | 41035338 | intergenic variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 9 | 114867763 | intron variant | C/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.200 | 6 | 32695787 | intergenic variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |