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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 19009572 | intron variant | -/G | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1.000 | 0.040 | 11 | 116746524 | downstream gene variant | A/C | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
11 | 35155029 | intron variant | A/C | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 104893841 | intron variant | A/C | snv | 0.20 |
|
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 | |||||||||
|
11 | 113235826 | intron variant | A/C | snv | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 218436132 | intron variant | A/C | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 139015171 | upstream gene variant | A/C | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
8 | 19946291 | intron variant | A/C | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 56965346 | intron variant | A/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 10033485 | intron variant | A/C | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 39562508 | non coding transcript exon variant | A/C;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2018 | |||||||||||
|
1 | 230169242 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
11 | 102799093 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
16 | 68375532 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
16 | 56980963 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
15 | 63104668 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
8 | 125469505 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||||
|
X | 47576648 | splice region variant | A/C;T | snv | 4.3E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 56974596 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
18 | 49560628 | upstream gene variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
15 | 58448935 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1.000 | 0.040 | 11 | 116655605 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 16 | 67942417 | missense variant | A/C;T | snv | 4.0E-06; 1.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |