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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 | 0.030 | 1.000 | 3 | 2010 | 2015 | |||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.030 | < 0.001 | 3 | 2007 | 2012 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.030 | 1.000 | 3 | 2012 | 2014 | ||||
|
14 | 0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 | 0.730 | 1.000 | 3 | 2011 | 2018 | ||||
|
15 | 0.763 | 0.160 | 17 | 42554888 | missense variant | G/A;C;T | snv | 0.56; 9.0E-05; 1.4E-05 | 0.030 | 1.000 | 3 | 2004 | 2015 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.020 | 0.500 | 2 | 2011 | 2012 | |||
|
24 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 0.020 | 0.500 | 2 | 2011 | 2015 | |||
|
7 | 0.882 | 0.080 | 10 | 121488063 | missense variant | A/T | snv | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||
|
2 | 0.925 | 0.080 | 11 | 101034325 | 3 prime UTR variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2009 | 2011 | |||||
|
6 | 0.882 | 0.200 | 17 | 37743574 | intron variant | A/G | snv | 0.43 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
7 | 0.851 | 0.200 | 17 | 37742390 | intron variant | G/A | snv | 0.50 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2010 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 0.500 | 2 | 2007 | 2015 | |||
|
7 | 0.851 | 0.080 | 10 | 121498520 | missense variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 0.925 | 0.080 | 6 | 21648854 | regulatory region variant | G/A | snv | 0.55 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
8 | 0.807 | 0.160 | 15 | 74720646 | missense variant | G/A;T | snv | 1.6E-05; 3.1E-02 | 0.020 | < 0.001 | 2 | 2007 | 2011 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 0.500 | 2 | 2006 | 2015 | |||
|
5 | 0.827 | 0.160 | 15 | 51344354 | intron variant | A/C | snv | 6.0E-02 | 0.020 | 1.000 | 2 | 2007 | 2007 | ||||
|
7 | 0.807 | 0.480 | 2 | 47800616 | missense variant | T/C;G | snv | 5.1E-03 | 0.700 | 1.000 | 2 | 2000 | 2004 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.020 | 1.000 | 2 | 2012 | 2013 | |||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.710 | 1.000 | 2 | 2015 | 2018 |