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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | X | 32650983 | intron variant | G/A | snv | 0.700 | 1.000 | 3 | 2004 | 2010 | |||||
|
2 | 0.925 | 0.120 | X | 32461403 | intron variant | T/C;G | snv | 5.7E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | X | 32698013 | intron variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 32454685 | stop gained | G/A | snv | 0.700 | 1.000 | 7 | 2008 | 2018 | |||||
|
1 | 1.000 | 0.120 | X | 31323639 | stop gained | C/T | snv | 0.700 | 1.000 | 5 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.120 | X | 31147289 | stop gained | G/A;T | snv | 5.5E-06 | 0.700 | 1.000 | 3 | 1998 | 2011 | ||||
|
1 | 1.000 | 0.120 | X | 32644171 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||
|
3 | 0.882 | 0.160 | X | 33211304 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2009 | 2017 | |||||
|
1 | 1.000 | 0.120 | X | 31180423 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2000 | 2013 | |||||
|
3 | 0.882 | 0.160 | X | 32645020 | stop gained | G/A;C | snv | 0.700 | 1.000 | 3 | 2009 | 2017 | |||||
|
1 | 1.000 | 0.120 | X | 32484946 | stop gained | G/A;T | snv | 2.2E-05 | 0.700 | 1.000 | 2 | 1997 | 2010 | ||||
|
1 | 1.000 | 0.120 | X | 32362847 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2005 | 2006 | |||||
|
1 | 1.000 | 0.120 | X | 32644202 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 1.000 | 2 | 2006 | 2008 | ||||
|
1 | 1.000 | 0.120 | X | 32411754 | stop gained | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.160 | X | 31178751 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | X | 32614419 | stop gained | T/A | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | X | 32464594 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 31182784 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 31206610 | stop gained | A/G;T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | X | 31627681 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 32343226 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 32518024 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 31478129 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 32518098 | stop gained | C/G;T | snv | 5.5E-06 | 0.700 | 0 |