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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
2 | X | 131278706 | missense variant | T/C;G | snv | 3.8E-05; 9.5E-03 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||
|
11 | 0.776 | 0.200 | 9 | 122371228 | missense variant | C/T | snv | 5.9E-02 | 8.5E-02 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
14 | 0.776 | 0.080 | 20 | 62345988 | intron variant | T/C | snv | 0.56 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 9 | 122381694 | missense variant | C/A | snv | 1.8E-02 | 1.8E-02 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
7 | 0.827 | 0.080 | 9 | 6365683 | intergenic variant | A/C | snv | 0.34 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 0.400 | 5 | 2001 | 2008 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 1.000 | 12 | 2005 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 11 | 2005 | 2019 | |||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.050 | 1.000 | 5 | 1999 | 2014 | |||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.040 | 1.000 | 4 | 1999 | 2007 | |||||
|
12 | 0.776 | 0.280 | 2 | 48688065 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.030 | 1.000 | 3 | 2000 | 2011 | ||||
|
32 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.030 | 1.000 | 3 | 2010 | 2015 | |||
|
6 | 0.851 | 0.080 | 19 | 14097604 | missense variant | A/C | snv | 0.030 | 1.000 | 3 | 2015 | 2017 | |||||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.030 | 1.000 | 3 | 2008 | 2019 | ||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.020 | 1.000 | 2 | 2007 | 2011 | |||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.020 | 1.000 | 2 | 2010 | 2018 | ||||
|
17 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 0.020 | 1.000 | 2 | 2002 | 2003 | |||
|
42 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 0.020 | 1.000 | 2 | 2007 | 2011 | ||||
|
31 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.020 | 1.000 | 2 | 2010 | 2012 | |||
|
14 | 0.776 | 0.120 | 7 | 87591570 | intron variant | A/G | snv | 0.50 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
4 | 0.925 | 0.080 | 11 | 128911776 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2012 | 2012 | |||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
16 | 0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 |