| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.727 | 22 | 2006 | 2019 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.750 | 20 | 2006 | 2018 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.750 | 20 | 2006 | 2018 | |||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.740 | 1.000 | 4 | 2017 | 2019 | ||||||||
|
0.742 | 0.240 | 17 | 7676230 | missense variant | G/A;T | snv | 1.2E-03 |
|
0.020 | 0.500 | 2 | 2010 | 2019 | ||||||||
|
0.882 | 0.080 | 17 | 7674971 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.160 | 17 | 7673794 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.280 | 17 | 7674109 | intron variant | G/A | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 17 | 7674183 | frameshift variant | G/- | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.732 | 0.240 | 17 | 7674951 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 17 | 7674290 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
1.000 | 0.080 | 3 | 133611099 | synonymous variant | G/A | snv | 0.69 | 0.72 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 20 | 41027702 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.732 | 0.400 | 5 | 151077924 | intron variant | G/C | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.200 | 8 | 23225458 | non coding transcript exon variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.645 | 0.440 | 8 | 23201811 | missense variant | C/G | snv | 0.54 | 0.44 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.030 | 0.667 | 3 | 2017 | 2019 | |||||||
|
1.000 | 0.080 | 6 | 31576538 | missense variant | C/T | snv | 3.2E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.708 | 0.320 | 4 | 55410167 | intron variant | T/C | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 12 | 128458822 | intron variant | C/T | snv | 1.2E-03 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |