| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.240 | 17 | 7559652 | missense variant | A/G | snv | 0.70 | 0.64 |
|
0.830 | 1.000 | 4 | 2011 | 2017 | |||||||
|
1.000 | 0.120 | 8 | 6965263 | downstream gene variant | A/G | snv | 0.28 |
|
0.810 | 1.000 | 4 | 2011 | 2015 | ||||||||
|
0.752 | 0.360 | 6 | 32609603 | intergenic variant | A/G | snv | 0.19 |
|
0.810 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
0.827 | 0.280 | 22 | 30027471 | 3 prime UTR variant | C/T | snv | 0.40 |
|
0.800 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
0.925 | 0.200 | 6 | 29974166 | upstream gene variant | C/A;G;T | snv |
|
0.800 | 1.000 | 2 | 2011 | 2015 | |||||||||
|
1.000 | 0.120 | 6 | 32703471 | downstream gene variant | G/A | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 17 | 7587859 | 3 prime UTR variant | G/T | snv | 0.71 | 0.67 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.160 | 2 | 110842129 | intron variant | G/A | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.200 | 1 | 196717788 | intron variant | G/A | snv | 0.23 |
|
0.750 | 1.000 | 6 | 2014 | 2020 | ||||||||
|
0.851 | 0.240 | 1 | 157700967 | upstream gene variant | C/T | snv | 0.28 |
|
0.720 | 1.000 | 3 | 2015 | 2020 | ||||||||
|
0.827 | 0.280 | 6 | 32713854 | upstream gene variant | C/T | snv | 0.66 |
|
0.720 | 1.000 | 3 | 2014 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 7041476 | upstream gene variant | T/A;C | snv |
|
0.710 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
1.000 | 0.120 | 1 | 107646236 | intron variant | A/G | snv | 0.19 |
|
0.710 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
0.882 | 0.320 | 22 | 30098382 | intron variant | G/A | snv | 0.55 |
|
0.710 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
0.925 | 0.160 | 8 | 6964095 | upstream gene variant | T/C | snv | 0.57 |
|
0.710 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
1.000 | 0.120 | 6 | 32702531 | downstream gene variant | A/G | snv | 0.64 |
|
0.710 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
0.763 | 0.360 | 9 | 136372044 | missense variant | C/A;T | snv | 4.0E-06; 0.41 |
|
0.710 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
1.000 | 0.120 | 16 | 31356857 | intron variant | T/C | snv | 0.52 |
|
0.710 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
1.000 | 0.120 | 8 | 7042814 | upstream gene variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 16 | 31346439 | intergenic variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.200 | 16 | 31357553 | missense variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.200 | 6 | 33118671 | non coding transcript exon variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 8 | 102535511 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.200 | 6 | 32843852 | missense variant | G/T | snv | 0.14 | 0.13 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.120 | 11 | 44066439 | 5 prime UTR variant | G/T | snv | 8.4E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |