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 | 0.925 | 0.120 | 8 | 64596913 | missense variant | C/T | snv | 2.8E-05 | 6.3E-05 | 0.800 | 1.000 | 10 | 2008 | 2016 | |||
|
3 | 0.882 | 0.120 | 8 | 64596707 | missense variant | G/A;T | snv | 5.2E-04; 8.0E-06 | 0.800 | 1.000 | 6 | 2009 | 2016 | ||||
|
1 | 1.000 | 0.080 | 8 | 64604827 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 6 | 2008 | 2016 | |||
|
1 | 1.000 | 0.080 | 8 | 64615894 | missense variant | A/G | snv | 0.800 | 1.000 | 6 | 2008 | 2016 | |||||
|
1 | 1.000 | 0.080 | 8 | 64624493 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 6 | 2008 | 2016 | ||||
|
1 | 1.000 | 0.080 | 8 | 64616281 | missense variant | C/A;T | snv | 0.800 | 1.000 | 6 | 2008 | 2016 | |||||
|
2 | 0.925 | 0.120 | 8 | 64615194 | missense variant | T/C | snv | 2.8E-05 | 2.8E-05 | 0.800 | 1.000 | 6 | 2008 | 2016 | |||
|
1 | 1.000 | 0.080 | 8 | 64596755 | missense variant | A/T | snv | 0.800 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 8 | 64596914 | missense variant | G/A | snv | 5.2E-05 | 7.0E-06 | 0.700 | 1.000 | 6 | 2008 | 2016 | |||
|
1 | 1.000 | 0.080 | 8 | 64616101 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 6 | 2008 | 2016 | ||||
|
3 | 0.882 | 0.120 | 8 | 64615716 | stop gained | A/G;T | snv | 7.6E-05 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 8 | 64624401 | splice donor variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 8 | 64596835 | missense variant | C/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.200 | 8 | 64604753 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 8 | 64615229 | missense variant | T/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 10 | 95606919 | missense variant | G/A;C | snv | 8.0E-06; 5.2E-05 | 0.700 | 0 |