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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 16 | 9768699 | intron variant | G/T | snv | 0.38 |
|
0.810 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 15 | 90302268 | intron variant | G/T | snv | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 16 | 6869182 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 6 | 52996406 | upstream gene variant | T/G | snv | 3.5E-03 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.280 | 17 | 4933086 | missense variant | C/T | snv | 9.8E-02 | 0.13 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 9 | 4763176 | downstream gene variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 19 | 44472854 | non coding transcript exon variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.730 | 1.000 | 1 | 2011 | 2019 | |||||||
|
1.000 | 0.080 | 21 | 38431740 | intron variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.200 | 6 | 33627622 | intron variant | A/G | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.080 | 6 | 33580617 | intron variant | G/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 6 | 33512658 | regulatory region variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 6 | 33211912 | missense variant | C/A;T | snv | 2.7E-05; 0.22 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.280 | 6 | 33207006 | upstream gene variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.200 | 6 | 33206065 | intron variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 6 | 33136398 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.160 | 6 | 33118074 | intron variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 6 | 33111389 | upstream gene variant | C/T | snv | 4.8E-02 |
|
0.710 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 33109999 | upstream gene variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.240 | 6 | 33107186 | intron variant | A/G | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.200 | 6 | 33105545 | intron variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 6 | 33098817 | upstream gene variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 6 | 33098817 | upstream gene variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 6 | 33095626 | intron variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |