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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.200 | 7 | 116783360 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
44 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
26 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
23 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
19 | 0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
2 | 1.000 | 0.120 | 4 | 1806604 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
5 | 0.851 | 0.240 | 4 | 1804365 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
18 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.160 | 7 | 116783353 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
5 | 0.851 | 0.120 | 3 | 9765892 | splice acceptor variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 6 | 161973326 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
9 | 0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
36 | 0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.827 | 0.120 | 7 | 142750561 | missense variant | C/T | snv | 9.0E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.732 | 0.320 | 6 | 151807942 | synonymous variant | T/A;C | snv | 8.1E-06; 0.46 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.742 | 0.320 | 18 | 52906232 | missense variant | C/A;G | snv | 0.45 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 1.000 | 0.160 | 3 | 37050576 | stop gained | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.851 | 0.200 | 2 | 47403192 | start lost | A/C;G;T | snv | 5.1E-05; 1.4E-05 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
13 | 0.732 | 0.240 | 4 | 1804426 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 |