| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 7 | 117252792 | intergenic variant | T/C | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 10 | 99524480 | upstream gene variant | T/A;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
5 | 130681594 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
14 | 75234518 | downstream gene variant | C/T | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.827 | 0.120 | 11 | 64382898 | intergenic variant | T/C | snv | 0.77 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
1.000 | 0.040 | 6 | 105987150 | regulatory region variant | A/G | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.160 | 5 | 159399784 | intron variant | C/A;G | snv | 0.29 |
|
0.820 | 0.667 | 1 | 2012 | 2017 | ||||||||
|
0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 18 | 48868651 | intergenic variant | A/G | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
10 | 92677094 | intergenic variant | T/A;C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||||
|
0.882 | 0.240 | 20 | 50338887 | regulatory region variant | T/C | snv | 0.51 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv |
|
0.810 | 1.000 | 1 | 2008 | 2012 | |||||||||
|
0.807 | 0.240 | 6 | 32619077 | intergenic variant | G/A | snv | 0.86 |
|
0.710 | 1.000 | 1 | 2011 | 2015 | ||||||||
|
2 | 24896016 | intron variant | C/T | snv | 0.53 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.850 | 1.000 | 1 | 2008 | 2017 | |||||||
|
0.925 | 0.120 | 16 | 28826194 | intron variant | T/C;G | snv | 0.38 |
|
0.810 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.200 | 6 | 90263440 | intron variant | C/A | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.925 | 0.040 | 9 | 136371953 | synonymous variant | G/A | snv | 0.41 | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||
|
8 | 129611859 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||||
|
0.790 | 0.400 | 18 | 69863203 | 3 prime UTR variant | G/A | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
1.000 | 0.040 | 19 | 10402235 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
1.000 | 0.040 | 6 | 20812357 | intron variant | G/A | snv | 0.64 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.790 | 0.080 | 15 | 90629669 | intron variant | C/T | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
1.000 | 0.080 | 11 | 118883644 | upstream gene variant | C/A | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2012 | 2012 |