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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.040 | 0.750 | 4 | 1998 | 2000 | |||
|
14 | 0.763 | 0.400 | 12 | 6044368 | missense variant | T/C;G | snv | 0.31 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
7 | 0.882 | 0.040 | 12 | 6019277 | missense variant | T/A;C | snv | 4.0E-06; 0.69 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
12 | 0.790 | 0.160 | 17 | 41612325 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 0.925 | 0.200 | 17 | 37701122 | missense variant | G/C | snv | 1.9E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
2 | 1.000 | 0.080 | 9 | 121302985 | missense variant | C/T | snv | 3.1E-04 | 4.0E-04 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
6 | 0.851 | 0.200 | 12 | 69350215 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
41 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
5 | 0.882 | 0.240 | 11 | 32428521 | missense variant | G/A;T | snv | 3.9E-04; 2.8E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 17 | 63498748 | intron variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
10 | 0.763 | 0.400 | 2 | 113132727 | missense variant | T/A;C | snv | 4.0E-06; 0.31 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
10 | 0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 9 | 35166766 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1 | 21 | 31659974 | non coding transcript exon variant | C/T | snv | 3.8E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 21 | 31720530 | intron variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
3 | 0.925 | 0.160 | 9 | 35381507 | intron variant | C/T | snv | 0.35 | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
37 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
20 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 1.000 | 0.080 | 21 | 31646056 | intergenic variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2008 | 2008 |