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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 18 | 36114157 | synonymous variant | G/A | snv | 0.33 | 0.30 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.807 | 0.120 | 7 | 21544470 | intron variant | G/A | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.752 | 0.240 | 6 | 40568389 | intron variant | G/A | snv | 0.51 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
0.720 | 1.000 | 1 | 2014 | 2018 | |||||||
|
0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 |
|
0.710 | 1.000 | 2 | 2009 | 2019 | |||||||
|
0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 |
|
0.710 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.925 | 0.080 | 12 | 100426307 | downstream gene variant | A/G | snv | 8.7E-02 |
|
0.710 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 |
|
0.710 | 1.000 | 1 | 2009 | 2016 | ||||||||
|
0.807 | 0.200 | 15 | 27985172 | missense variant | C/T | snv | 4.7E-02 | 4.9E-02 |
|
0.710 | 1.000 | 1 | 2009 | 2019 | |||||||
|
0.925 | 0.080 | 1 | 162778600 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 3 | 2008 | 2013 | |||||||||
|
0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.080 | 9 | 16884588 | regulatory region variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv |
|
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 | ||||||||
|
1.000 | 0.040 | 16 | 89388583 | intron variant | T/C | snv | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 55181437 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 7 | 55181438 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
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 | ||||||||
|
1.000 | 0.040 | 13 | 32354271 | intron variant | G/A | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 15 | 28088564 | intron variant | G/A | snv |
|
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 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |