Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
31 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 0.800 | 1.000 | 22 | 1994 | 2020 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.867 | 15 | 2005 | 2017 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.100 | 0.857 | 14 | 2005 | 2017 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.100 | 0.857 | 14 | 2005 | 2017 | |||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.100 | 0.700 | 10 | 2009 | 2020 | ||||
|
46 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 0.080 | 0.875 | 8 | 2013 | 2019 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.060 | 1.000 | 6 | 2007 | 2015 | |||||
|
15 | 0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv | 0.840 | 1.000 | 6 | 2011 | 2017 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.050 | 1.000 | 5 | 2014 | 2019 | ||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.050 | 0.800 | 5 | 2008 | 2017 | ||||
|
10 | 0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv | 0.740 | 0.800 | 5 | 2012 | 2018 | |||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.730 | 1.000 | 4 | 2008 | 2019 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.720 | 1.000 | 3 | 2008 | 2019 | ||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 1.000 | 3 | 2004 | 2016 | ||||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.700 | 1.000 | 3 | 2004 | 2016 | ||||
|
21 | 0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv | 0.820 | 1.000 | 3 | 2016 | 2018 | |||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2011 | 2018 | |||||
|
17 | 0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 3 | 2014 | 2016 | |||||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.030 | 0.667 | 3 | 2011 | 2018 | |||||
|
17 | 0.708 | 0.480 | 10 | 52771925 | upstream gene variant | G/A;C;T | snv | 0.030 | 1.000 | 3 | 2011 | 2019 | |||||
|
14 | 0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 | 0.030 | 1.000 | 3 | 2019 | 2020 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
7 | 0.827 | 0.200 | 9 | 36036597 | upstream gene variant | T/A;C;G | snv | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||
|
21 | 0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 | 0.720 | 1.000 | 2 | 2011 | 2011 | ||||
|
15 | 0.724 | 0.400 | 17 | 7674238 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 2 | 2004 | 2016 |