| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.080 | 5 | 33946466 | 3 prime UTR variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 17 | 41741012 | intergenic variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 3 | 188370473 | intron variant | A/G | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 12 | 100426307 | downstream gene variant | A/G | snv | 8.7E-02 |
|
0.710 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 18 | 12821594 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.763 | 0.280 | 5 | 75355259 | non coding transcript exon variant | A/G | snv | 0.50 | 0.58 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.240 | 19 | 44744370 | upstream gene variant | A/G | snv | 7.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.080 | 20 | 34077942 | intron variant | A/G | snv | 0.95 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 2 | 201289197 | intron variant | A/G | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 10 | 89014205 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 10 | 89008907 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
0.720 | 1.000 | 1 | 2014 | 2018 | |||||||
|
1.000 | 0.040 | 16 | 89961218 | intron variant | A/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 17 | 2268343 | intron variant | C/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 |
|
0.710 | 1.000 | 1 | 2009 | 2016 | ||||||||
|
1.000 | 0.040 | 9 | 21970980 | missense variant | C/A;G | snv | 1.3E-03; 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 95467191 | missense variant | C/A;T | snv | 4.0E-06; 3.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 |
|
0.710 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.851 | 0.040 | 6 | 4979722 | downstream gene variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.080 | 15 | 28165345 | intron variant | C/T | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 9 | 136446350 | intron variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |