| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 104824519 | missense variant | C/T | snv | 1.2E-03 | 4.9E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
9 | 104886371 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
10 | 106706654 | intron variant | C/T | snv | 0.98 | 0.97 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
10 | 106873848 | intron variant | G/A | snv | 8.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 10698673 | intron variant | T/C | snv | 5.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 107258176 | intron variant | A/G | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 107436774 | synonymous variant | A/C | snv | 0.99 | 0.95 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
8 | 10826419 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
1 | 109247173 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
0.925 | 0.160 | 1 | 109272258 | intron variant | C/T | snv | 0.17 | 0.21 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 1 | 109272630 | non coding transcript exon variant | A/G | snv | 0.28 | 0.32 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 |
|
0.800 | 1.000 | 1 | 2009 | 2016 | ||||||||
|
12 | 109532300 | intron variant | G/A | snv | 9.1E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
13 | 110289053 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
12 | 110330422 | non coding transcript exon variant | G/C | snv | 2.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.080 | 19 | 11084354 | downstream gene variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.790 | 0.120 | 19 | 11091630 | intron variant | G/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1 | 111554040 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.827 | 0.120 | 8 | 11187652 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1 | 112476560 | intron variant | C/T | snv | 3.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 113087161 | intron variant | T/C | snv | 1.3E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
13 | 113118661 | missense variant | G/A;T | snv | 8.0E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
13 | 113846042 | intron variant | T/A;C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 114407208 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
11 | 115451829 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 |