| 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 | 0.160 | 20 | 58905443 | missense variant | C/T | snv | 0.800 | 1.000 | 11 | 1993 | 2015 | |||||
|
1 | 1.000 | 0.120 | 20 | 58903569 | missense variant | T/C | snv | 0.800 | 1.000 | 10 | 1993 | 2005 | |||||
|
1 | 1.000 | 0.120 | 20 | 58909715 | missense variant | C/G | snv | 0.800 | 1.000 | 10 | 1993 | 2005 | |||||
|
1 | 1.000 | 0.120 | 20 | 58909553 | missense variant | G/A | snv | 0.800 | 1.000 | 10 | 1993 | 2005 | |||||
|
28 | 0.716 | 0.520 | 20 | 58903703 | missense variant | C/T | snv | 0.800 | 1.000 | 10 | 1993 | 2005 | |||||
|
2 | 0.925 | 0.120 | 20 | 58909737 | missense variant | C/T | snv | 0.700 | 1.000 | 10 | 1993 | 2005 | |||||
|
2 | 0.925 | 0.120 | 20 | 58891760 | stop gained | C/G;T | snv | 5.0E-06 | 0.700 | 1.000 | 4 | 2000 | 2016 | ||||
|
2 | 0.925 | 0.120 | 20 | 58910740 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
16 | 0.732 | 0.320 | 20 | 58891811 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 20 | 58853740 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.776 | 0.240 | 20 | 58891727 | start lost | A/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 20 | 58909194 | frameshift variant | GACT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 20 | 58909991 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 20 | 58854612 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 11 | 13492413 | missense variant | A/G;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 20 | 58854618 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.160 | 20 | 58840698 | missense variant | G/A | snv | 8.9E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 10 | 133420067 | missense variant | C/T | snv | 6.4E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.120 | 20 | 58910810 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.200 | 20 | 58910710 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |