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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 1 | 171117317 | missense variant | C/T | snv | 1.2E-04 | 1.8E-04 | 0.800 | 1.000 | 7 | 1998 | 2012 | |||
|
1 | 1.000 | 0.080 | 1 | 171107811 | missense variant | C/T | snv | 1.0E-03 | 1.5E-03 | 0.820 | 1.000 | 6 | 1997 | 2012 | |||
|
1 | 1.000 | 0.080 | 1 | 171114108 | missense variant | C/T | snv | 1.2E-04 | 6.3E-05 | 0.700 | 1.000 | 3 | 2013 | 2017 | |||
|
1 | 1.000 | 0.080 | 1 | 171114092 | stop gained | G/A;T | snv | 2.9E-04 | 0.700 | 1.000 | 3 | 1998 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 171103834 | missense variant | A/G | snv | 1.6E-05 | 7.0E-06 | 0.800 | 1.000 | 2 | 2000 | 2012 | |||
|
1 | 1.000 | 0.080 | 1 | 171110883 | missense variant | G/A;C;T | snv | 2.4E-05; 8.0E-06; 8.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2009 | ||||
|
1 | 1.000 | 0.080 | 1 | 171108207 | missense variant | C/T | snv | 2.0E-04 | 3.5E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 171092752 | missense variant | G/A | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 171103806 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 171103850 | missense variant | G/C;T | snv | 8.0E-06 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 171114339 | missense variant | G/A;T | snv | 1.1E-04 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 171117145 | missense variant | G/A | snv | 5.6E-05 | 7.0E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 1 | 171117267 | missense variant | G/A | snv | 5.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 1 | 171107723 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 1 | 171107795 | stop gained | G/A;T | snv | 2.0E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 171114119 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 171108183 | stop gained | TG/- | delins | 0.700 | 1.000 | 2 | 2007 | 2007 |