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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
22 | 0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.080 | 0.750 | 8 | 2005 | 2014 | ||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
27 | 0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
23 | 0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
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 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
8 | 0.790 | 0.240 | 17 | 17812003 | synonymous variant | C/G;T | snv | 0.50; 7.5E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
25 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.040 | 0.750 | 4 | 2004 | 2013 | |||
|
18 | 0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.160 | 19 | 10489766 | synonymous variant | G/C | snv | 0.41 | 0.48 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
24 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
20 | 0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
22 | 0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
27 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 18 | 677302 | intron variant | G/A | snv | 0.34 | 0.34 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
24 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 0.020 | 0.500 | 2 | 2011 | 2015 | |||
|
16 | 0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 | 0.030 | 1.000 | 3 | 2010 | 2015 | |||
|
16 | 0.742 | 0.320 | 2 | 233693545 | missense variant | A/G | snv | 0.31 | 0.30 | 0.010 | 1.000 | 1 | 2008 | 2008 |