| 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 | 13 | 38041119 | intron variant | A/C | snv | 3.1E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 2 | 118661291 | regulatory region variant | A/G | snv | 1.1E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
9 | 82800066 | intergenic variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.160 | 4 | 87292656 | intergenic variant | A/G | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
21 | 28754160 | regulatory region variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 355870 | intron variant | A/G | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 54151583 | intron variant | A/G | snv | 8.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 4 | 76495474 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
9 | 27869512 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.120 | 6 | 138018697 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
2 | 232655544 | intron variant | A/T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 5 | 174435441 | intron variant | A/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
7 | 28139639 | intron variant | C/A | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.120 | 22 | 31829377 | intron variant | C/A | snv | 6.6E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
4 | 145900258 | intron variant | C/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 77920756 | intron variant | C/A | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 144505033 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.0E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 87254878 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
9 | 6665010 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 6669940 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 169013785 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |