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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.160 | 1 | 65624099 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | |||||||
|
0.752 | 0.520 | 1 | 159715346 | upstream gene variant | A/G | snv | 0.13 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2011 | 2019 | |||||||||
|
1.000 | 0.080 | 2 | 113083453 | upstream gene variant | A/G | snv | 0.39 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
16 | 51124799 | intergenic variant | C/T | snv | 3.2E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2018 | ||||||||||
|
12 | 103089316 | intron variant | A/G | snv | 0.60 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||||
|
1 | 39599289 | regulatory region variant | G/A | snv | 0.16 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 247438293 | intron variant | T/C | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||||
|
0.925 | 0.120 | 7 | 73556901 | intron variant | C/T | snv | 9.2E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | |||||||
|
7 | 22693220 | intron variant | G/A | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.851 | 0.200 | 21 | 39093608 | intergenic variant | G/A | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
1.000 | 0.040 | 18 | 12821594 | intron variant | A/G | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
15 | 60602766 | intron variant | C/T | snv | 0.70 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 65695778 | intergenic variant | T/C | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||||
|
5 | 132503926 | intron variant | G/A | snv | 0.62 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 116792862 | synonymous variant | G/A | snv | 0.33 | 0.29 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 5 | 2012 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 159721769 | intergenic variant | G/A | snv | 0.32 |
|
0.800 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
1.000 | 0.120 | 1 | 159722747 | intergenic variant | T/A | snv | 0.15 |
|
0.800 | 1.000 | 4 | 2012 | 2015 | ||||||||
|
1 | 159719598 | intergenic variant | T/A | snv | 0.32 |
|
0.700 | 1.000 | 4 | 2012 | 2014 | ||||||||||
|
1 | 159706221 | upstream gene variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 4 | 2012 | 2014 | ||||||||||
|
0.925 | 0.160 | 1 | 159707006 | upstream gene variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 4 | 2012 | 2014 |