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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 2 | 191066738 | intron variant | A/C | snv | 0.45 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.925 | 0.040 | 2 | 218286495 | 5 prime UTR variant | A/C | snv | 0.61 |
|
0.810 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.925 | 0.040 | 10 | 62685804 | intron variant | A/G | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
12 | 12504579 | intron variant | A/G | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.040 | 5 | 150898347 | intron variant | A/G | snv | 8.8E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
6 | 143577757 | intron variant | A/G | snv | 4.8E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||||
|
0.925 | 0.080 | 10 | 79272775 | intron variant | A/G | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 17 | 59886176 | missense variant | A/G | snv | 0.45 | 0.46 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | |||||||
|
0.925 | 0.080 | 7 | 100717894 | upstream gene variant | A/G | snv | 0.84 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 |
|
0.810 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 |
|
0.820 | 1.000 | 1 | 2006 | 2017 | ||||||||
|
0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
22 | 30090837 | intron variant | A/G | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
20 | 32137845 | intron variant | A/G | snv | 0.69 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 6 | 105987150 | regulatory region variant | A/G | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
11 | 87414396 | intergenic variant | A/G | snv | 0.69 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 1 | 155908941 | intron variant | A/G | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 18 | 48868651 | intergenic variant | A/G | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.827 | 0.120 | 2 | 60977721 | intron variant | A/G | snv | 0.37 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.925 | 0.040 | 4 | 122240464 | intron variant | A/G | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
1.000 | 0.040 | 8 | 125522429 | intron variant | A/G | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
4 | 73991991 | upstream gene variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 |