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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 21174310 | intergenic variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||||
|
2 | 21166147 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||||
|
1 | 109277359 | downstream gene variant | C/T | snv | 6.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 21065354 | intergenic variant | G/A | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 21170751 | intergenic variant | A/G | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1 | 109278685 | downstream gene variant | G/T | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 109247173 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1.000 | 0.040 | 2 | 21047682 | upstream gene variant | A/C | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1 | 109289661 | downstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
11 | 102959002 | upstream gene variant | A/G | snv | 0.98 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 21088819 | intergenic variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 21088669 | intergenic variant | T/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.120 | 5 | 75329662 | intron variant | C/A | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
11 | 102379653 | downstream gene variant | C/T | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.040 | 11 | 116741017 | intergenic variant | C/G | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
22 | 35377961 | upstream gene variant | A/G | snv | 3.7E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 94016821 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1 | 94037627 | intron variant | A/G | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 94043489 | intron variant | A/T | snv | 2.5E-03 | 9.9E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
2 | 168944893 | synonymous variant | T/C | snv | 5.8E-03 | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
2 | 168966582 | intron variant | G/A | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 169011063 | intron variant | T/C | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 50668426 | splice region variant | G/A | snv | 7.4E-03 | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
13 | 95083956 | intron variant | C/T | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |