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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.160 | 3 | 36996698 | frameshift variant | -/C | delins | 0.720 | 0.500 | 2 | 2006 | 2009 | |||||
|
3 | 0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv | 0.720 | 0.947 | 2 | 1995 | 2014 | |||||
|
4 | 0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv | 0.720 | 1.000 | 2 | 1975 | 2017 | |||||
|
2 | 0.925 | 0.160 | 3 | 36996645 | missense variant | A/C | snv | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.882 | 0.160 | 3 | 37040291 | missense variant | T/C;G | snv | 0.710 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.160 | 3 | 37007002 | stop gained | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.851 | 0.160 | 3 | 36996702 | missense variant | G/A | snv | 0.710 | < 0.001 | 1 | 2009 | 2009 | |||||
|
2 | 0.882 | 0.160 | 3 | 37008904 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.882 | 0.160 | 3 | 37047652 | missense variant | T/A;C | snv | 0.710 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 0.925 | 0.160 | 3 | 37020411 | missense variant | A/C | snv | 0.710 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 0.851 | 0.160 | 3 | 37004444 | missense variant | C/G;T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 1996 | 2013 | ||||
|
4 | 0.851 | 0.200 | 3 | 37048562 | missense variant | C/G;T | snv | 0.710 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.851 | 0.160 | 3 | 37017508 | missense variant | C/A;T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 1999 | 2014 | ||||
|
1 | 0.925 | 0.160 | 3 | 37042321 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2005 | 2005 | |||||
|
7 | 0.827 | 0.160 | 3 | 37047639 | missense variant | AA/GC | mnv | 0.030 | 0.667 | 3 | 2006 | 2012 | |||||
|
6 | 0.827 | 0.160 | 3 | 37050495 | missense variant | C/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2007 | ||||
|
28 | 0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 | 0.020 | 1.000 | 2 | 2006 | 2012 | ||||
|
1 | 0.925 | 0.160 | 3 | 37047531 | missense variant | C/G;T | snv | 0.020 | 0.500 | 2 | 1999 | 2005 | |||||
|
2 | 0.925 | 0.160 | 3 | 37025666 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.160 | 3 | 37025645 | missense variant | A/G | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 3 | 37025865 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 3 | 36996623 | splice acceptor variant | G/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.200 | 3 | 37007004 | missense variant | G/C | snv | 2.1E-04 | 1.9E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 0.925 | 0.160 | 3 | 37048557 | missense variant | A/C;G | snv | 4.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.925 | 0.160 | 3 | 37028819 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 |