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 | 0.882 | 0.120 | MT | 9176 | missense variant | T/C;G | snv | 0.800 | 1.000 | 11 | 1993 | 2007 | |||||
|
4 | 0.882 | 0.120 | MT | 9185 | missense variant | T/C | snv | 0.810 | 1.000 | 8 | 1993 | 2013 | |||||
|
2 | 0.925 | 0.120 | 9 | 133352074 | missense variant | A/C | snv | 0.700 | 1.000 | 7 | 1998 | 2012 | |||||
|
2 | 0.925 | 0.120 | MT | 10191 | missense variant | T/C | snv | 0.710 | 1.000 | 7 | 2001 | 2019 | |||||
|
2 | 0.925 | 0.120 | 9 | 133353893 | missense variant | C/T | snv | 0.700 | 1.000 | 7 | 1998 | 2012 | |||||
|
2 | 0.925 | 0.120 | 9 | 133352518 | missense variant | A/G | snv | 0.700 | 1.000 | 7 | 1998 | 2012 | |||||
|
1 | 1.000 | 0.120 | 9 | 133354713 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 1998 | 2012 | ||||
|
1 | 1.000 | 0.120 | 9 | 133353894 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 1.000 | 7 | 1998 | 2012 | ||||
|
1 | 1.000 | 0.120 | 9 | 133352509 | stop gained | G/A | snv | 1.1E-04 | 7.0E-05 | 0.700 | 1.000 | 6 | 1999 | 2014 | |||
|
2 | 0.925 | 0.120 | MT | 12706 | missense variant | T/C | snv | 0.800 | 1.000 | 5 | 2002 | 2007 | |||||
|
2 | 0.925 | 0.120 | 9 | 133352708 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 0.700 | 1.000 | 5 | 2002 | 2014 | |||
|
1 | 1.000 | 0.120 | 9 | 133352135 | frameshift variant | TG/- | delins | 1.4E-05 | 2.8E-05 | 0.700 | 1.000 | 5 | 2006 | 2013 | |||
|
3 | 0.882 | 0.120 | 9 | 133354661 | frameshift variant | GGCTGGCAGA/AT | delins | 0.700 | 1.000 | 5 | 1998 | 2015 | |||||
|
2 | 0.925 | 0.120 | 10 | 99727098 | stop gained | G/C | snv | 2.5E-04 | 2.9E-04 | 0.700 | 1.000 | 4 | 2005 | 2016 | |||
|
3 | 0.882 | 0.120 | MT | 14487 | missense variant | T/C | snv | 0.800 | 1.000 | 4 | 2003 | 2005 | |||||
|
2 | 0.925 | 0.120 | MT | 10158 | missense variant | T/C | snv | 0.700 | 1.000 | 4 | 2003 | 2005 | |||||
|
2 | 0.925 | 0.120 | MT | 8851 | missense variant | T/C | snv | 0.700 | 1.000 | 4 | 1995 | 2013 | |||||
|
1 | 1.000 | 0.120 | MT | 13514 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 2001 | 2004 | |||||
|
2 | 0.925 | 0.120 | 5 | 53683152 | frameshift variant | A/-;AA | delins | 2.8E-05 | 0.700 | 1.000 | 4 | 2008 | 2014 | ||||
|
2 | 0.925 | 0.120 | 9 | 133352446 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 3 | 1998 | 2013 | ||||
|
2 | 0.925 | 0.120 | 5 | 251011 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 1995 | 2015 | |||||
|
5 | 0.851 | 0.120 | 10 | 99724057 | missense variant | G/A | snv | 3.2E-05 | 3.5E-05 | 0.710 | 1.000 | 3 | 2004 | 2016 | |||
|
2 | 0.925 | 0.120 | 5 | 53603451 | splice acceptor variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2003 | 2010 | |||
|
4 | 0.882 | 0.120 | 10 | 99716419 | missense variant | A/C;G | snv | 1.2E-05 | 0.710 | 1.000 | 3 | 2004 | 2016 | ||||
|
1 | 1.000 | 0.120 | 9 | 133352139 | splice acceptor variant | CTCT/-;CT | delins | 4.5E-06; 4.5E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2012 | 2014 |