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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 0.500 | 2 | 2007 | 2009 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 0.500 | 2 | 2007 | 2009 | |||||
|
5 | 0.827 | 0.120 | 17 | 7673749 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.851 | 0.080 | 17 | 7679695 | intron variant | C/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.732 | 0.160 | 17 | 7674089 | intron variant | A/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.080 | 17 | 7685993 | non coding transcript exon variant | G/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.040 | 17 | 7674963 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
6 | 0.807 | 0.080 | 17 | 7675361 | 5 prime UTR variant | A/G | snv | 7.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.360 | 17 | 7675052 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
18 | 0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 17 | 7675130 | frameshift variant | -/CCATGGC | delins | 0.700 | 0 | ||||||||
|
28 | 0.667 | 0.480 | 17 | 7674241 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
25 | 0.662 | 0.480 | 17 | 7673779 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.925 | 0.040 | 17 | 7673790 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2005 | 2005 | ||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.720 | 1.000 | 2 | 2007 | 2012 | ||||
|
21 | 0.695 | 0.440 | 17 | 7675218 | missense variant | T/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
6 | 0.807 | 0.200 | 17 | 7676483 | 5 prime UTR variant | G/A;C;T | snv | 1.2E-05; 0.67; 2.8E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
15 | 0.752 | 0.240 | 17 | 7674892 | synonymous variant | T/A;C | snv | 1.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.040 | 0.750 | 4 | 2007 | 2019 |