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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.120 | 1 | 203700807 | missense variant | T/C | snv | 4.0E-06 | 3.5E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.120 | 3 | 8745701 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 7 | 150958430 | stop gained | G/C;T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | 7 | 150947453 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150959738 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 2 | 2000 | 2009 | |||||
|
1 | 1.000 | 0.120 | 11 | 2572846 | missense variant | GA/TT | mnv | 0.700 | 1.000 | 10 | 1999 | 2016 | |||||
|
1 | 1.000 | 0.120 | 11 | 2445295 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 2572069 | frameshift variant | AGGCTCCTGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 2572062 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 2587616 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150951698 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150950200 | frameshift variant | -/TC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150959642 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 3 | 8733882 | frameshift variant | GG/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 7 | 150948978 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 150950983 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 150947683 | frameshift variant | GG/T | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 11 | 2528005 | frameshift variant | CT/- | delins | 0.710 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 1 | 162267300 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 14 | 90404691 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 7 | 150958306 | frameshift variant | TGCCA/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 21 | 34449622 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 1.000 | 4 | 1997 | 2014 | ||||
|
1 | 1.000 | 0.120 | 7 | 150951110 | stop gained | A/C;G;T | snv | 0.66 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 2 | 47160802 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.160 | 6 | 26092760 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |