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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.030 | 1.000 | 3 | 2009 | 2010 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.030 | 1.000 | 3 | 2010 | 2011 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
48 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.120 | 19 | 45387615 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.752 | 0.280 | 19 | 41345604 | intron variant | C/A | snv | 0.51 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
55 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 19 | 45370161 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
25 | 0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 0.667 | 3 | 2017 | 2019 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 0.500 | 2 | 2017 | 2018 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 0.500 | 2 | 2017 | 2018 | |||||
|
8 | 0.776 | 0.280 | 17 | 6999441 | missense variant | A/G | snv | 0.60 | 0.62 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.160 | 17 | 6996757 | intron variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 17 | 4632090 | intron variant | A/C;G | snv | 4.0E-06; 0.53 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 17 | 6656544 | intron variant | G/A | snv | 3.9E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 17 | 30236544 | upstream gene variant | T/C | snv | 9.0E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
2 | 0.925 | 0.080 | 15 | 90782869 | missense variant | C/A;G;T | snv | 4.0E-06; 5.6E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
36 | 0.630 | 0.640 | 15 | 74719300 | downstream gene variant | A/G;T | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 14 | 68536271 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2020 | 2020 |