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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.120 | 17 | 70175553 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2005 | 2017 | |||||
|
10 | 0.763 | 0.120 | 11 | 2527959 | missense variant | A/G | snv | 0.030 | 1.000 | 3 | 2007 | 2014 | |||||
|
8 | 0.827 | 0.120 | 1 | 237377386 | missense variant | G/A;T | snv | 0.030 | 1.000 | 3 | 2009 | 2018 | |||||
|
2 | 7 | 150947362 | missense variant | T/C | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||||
|
17 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
17 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 0.020 | 1.000 | 2 | 2010 | 2017 | |||||
|
3 | 0.925 | 0.120 | 3 | 8745701 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 5 | 173232776 | stop gained | A/C;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
5 | 0.851 | 0.120 | 7 | 150951629 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.120 | 11 | 2572984 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.120 | 7 | 150951511 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.925 | 0.120 | 1 | 237454396 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.080 | 1 | 237819181 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.040 | 12 | 54582053 | missense variant | C/T | snv | 2.7E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 12 | 32822599 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
3 | 1.000 | 0.120 | 7 | 150958295 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 1.000 | 0.080 | 6 | 121447691 | missense variant | T/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.120 | 3 | 38581337 | missense variant | GA/TT | mnv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.882 | 0.120 | 3 | 38604062 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
5 | 0.851 | 0.080 | 12 | 110345436 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.080 | 11 | 2572015 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.120 | 11 | 2583540 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2004 | 2004 |