| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
16 | 56972678 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||||
|
16 | 56967026 | intron variant | G/A | snv | 9.4E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2018 | ||||||||||
|
16 | 56966973 | intron variant | G/A | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
0.851 | 0.160 | 16 | 56971567 | intron variant | C/A | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.882 | 0.120 | 16 | 56963321 | intron variant | G/A | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
16 | 56972466 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 56973534 | intron variant | T/A;G | snv | 2.4E-05; 0.22 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 56965416 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 56977385 | non coding transcript exon variant | T/C | snv | 8.9E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 56971389 | splice region variant | C/T | snv | 0.40 | 0.34 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
16 | 56973539 | intron variant | G/A | snv | 0.76; 4.0E-06 | 0.70 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
16 | 56976020 | intron variant | C/T | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 56976029 | intron variant | T/C | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.708 | 0.440 | 16 | 56962376 | intron variant | G/A | snv | 0.42 | 0.38 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 16 | 56962299 | splice region variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
16 | 56965346 | intron variant | A/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 56969811 | intron variant | G/T | snv | 0.96 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 56970065 | intron variant | T/C | snv | 0.97 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |