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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 178776789 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 36718103 | missense variant | G/A | snv | 9.2E-05 | 1.6E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 4 | 78826060 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
25 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.882 | 0.200 | 19 | 1207169 | stop gained | C/G;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 7 | 140781597 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
22 | 0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.080 | 19 | 1220395 | missense variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 19 | 1218494 | missense variant | A/G | snv | 1.2E-05 | 3.5E-05 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
32 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
8 | 0.827 | 0.080 | 5 | 42718990 | missense variant | C/A | snv | 2.3E-03 | 7.4E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.925 | 0.080 | 7 | 55191741 | missense variant | G/A | snv | 4.8E-05 | 3.5E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 1 | 16137994 | missense variant | C/G;T | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 1 | 162775707 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 162778617 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.080 | 1 | 162754625 | missense variant | C/G | snv | 6.8E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 1 | 162759881 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 |