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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 | 0.750 | 1.000 | 19 | 2002 | 2019 | |||
|
2 | 0.925 | 0.120 | 2 | 169487811 | missense variant | G/A | snv | 7.0E-06 | 0.710 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 10 | 110900466 | stop gained | A/C | snv | 7.2E-06 | 1.4E-05 | 0.710 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 12 | 76347254 | frameshift variant | TTCT/- | delins | 0.700 | 1.000 | 10 | 2006 | 2019 | |||||
|
4 | 0.851 | 0.120 | 16 | 56496982 | missense variant | C/G;T | snv | 1.2E-04; 2.0E-05 | 0.700 | 1.000 | 9 | 2001 | 2015 | ||||
|
5 | 0.827 | 0.120 | 16 | 56514487 | missense variant | T/G | snv | 4.4E-05 | 2.8E-05 | 0.700 | 1.000 | 7 | 2001 | 2015 | |||
|
2 | 0.925 | 0.120 | 11 | 66531692 | stop gained | G/A;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 7 | 2002 | 2012 | ||||
|
2 | 0.925 | 0.120 | 12 | 76347712 | missense variant | G/C | snv | 2.8E-05 | 4.2E-05 | 0.700 | 1.000 | 7 | 2006 | 2019 | |||
|
2 | 0.925 | 0.120 | 12 | 76345865 | frameshift variant | CA/- | delins | 6.4E-05 | 3.5E-05 | 0.700 | 1.000 | 7 | 2006 | 2016 | |||
|
1 | 1.000 | 0.120 | 11 | 66515543 | stop gained | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 7 | 2003 | 2019 | |||
|
2 | 0.925 | 0.120 | 12 | 76346308 | stop gained | G/A;C;T | snv | 2.0E-05; 4.0E-06; 4.0E-05 | 0.700 | 1.000 | 6 | 2010 | 2017 | ||||
|
3 | 0.882 | 0.120 | 4 | 121854790 | missense variant | G/A | snv | 8.0E-06 | 6.3E-05 | 0.700 | 1.000 | 5 | 2003 | 2013 | |||
|
2 | 0.925 | 0.120 | 16 | 56514623 | stop gained | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 5 | 2001 | 2015 | |||
|
3 | 0.882 | 0.120 | 16 | 56502790 | stop gained | G/A | snv | 1.9E-04 | 9.8E-05 | 0.700 | 1.000 | 5 | 2001 | 2011 | |||
|
13 | 0.752 | 0.280 | 12 | 76347713 | frameshift variant | -/A | delins | 6.0E-04 | 0.700 | 1.000 | 5 | 2006 | 2019 | ||||
|
3 | 0.882 | 0.120 | 12 | 76346894 | frameshift variant | T/- | delins | 6.8E-05 | 4.9E-05 | 0.700 | 1.000 | 5 | 2007 | 2019 | |||
|
2 | 0.925 | 0.120 | 11 | 66526753 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 5 | 2003 | 2011 | ||||
|
4 | 0.925 | 0.160 | 9 | 116699201 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2002 | 2013 | ||||
|
2 | 0.925 | 0.120 | 12 | 76347219 | stop gained | G/A;C | snv | 0.700 | 1.000 | 4 | 2010 | 2016 | |||||
|
2 | 0.925 | 0.120 | 12 | 76346308 | frameshift variant | G/- | del | 0.700 | 1.000 | 4 | 2010 | 2014 | |||||
|
1 | 1.000 | 0.120 | 12 | 76346530 | frameshift variant | TTTG/- | delins | 0.700 | 1.000 | 4 | 2010 | 2016 | |||||
|
1 | 1.000 | 0.120 | 12 | 76346986 | stop gained | A/T | snv | 0.700 | 1.000 | 4 | 1966 | 2016 | |||||
|
2 | 0.925 | 0.120 | 4 | 122743006 | frameshift variant | TT/- | delins | 0.700 | 1.000 | 4 | 2007 | 2019 | |||||
|
10 | 0.807 | 0.240 | 12 | 76348214 | missense variant | G/A | snv | 4.8E-05 | 4.9E-05 | 0.700 | 1.000 | 4 | 2006 | 2015 | |||
|
2 | 0.925 | 0.120 | 12 | 76347073 | frameshift variant | GACT/- | delins | 1.6E-05 | 2.8E-05 | 0.700 | 1.000 | 4 | 2010 | 2016 |