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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.120 | MT | 9185 | missense variant | T/C | snv | 0.810 | 1.000 | 8 | 1993 | 2013 | |||||
|
3 | 0.882 | 0.120 | MT | 9176 | missense variant | T/C;G | snv | 0.800 | 1.000 | 11 | 1993 | 2007 | |||||
|
18 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 0.800 | 1.000 | 10 | 1990 | 2007 | |||||
|
3 | 0.882 | 0.200 | MT | 10197 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2007 | 2009 | |||||
|
2 | 0.925 | 0.120 | MT | 10191 | missense variant | T/C | snv | 0.710 | 1.000 | 7 | 2001 | 2019 | |||||
|
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 | |||||
|
5 | 0.851 | 0.200 | MT | 8344 | non coding transcript exon variant | A/G | snv | 0.700 | 1.000 | 2 | 1991 | 1993 | |||||
|
4 | 0.882 | 0.200 | MT | 8363 | non coding transcript exon variant | G/A | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 1.000 | 0.120 | MT | 8839 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | MT | 9191 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.120 | MT | 9531 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.120 | MT | 9478 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | MT | 10254 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.120 | MT | 8989 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | MT | 10134 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 |