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 | 0.200 | 11 | 119028223 | missense variant | A/G | snv | 7.0E-06 | 0.810 | 1.000 | 21 | 1997 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 119029287 | missense variant | C/T | snv | 1.2E-05 | 0.800 | 1.000 | 29 | 1997 | 2017 | ||||
|
1 | 1.000 | 0.080 | 11 | 119026640 | missense variant | A/T | snv | 7.0E-06 | 0.800 | 1.000 | 24 | 1997 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 119025299 | missense variant | C/A | snv | 7.8E-05 | 7.7E-05 | 0.800 | 1.000 | 24 | 1997 | 2014 | |||
|
1 | 1.000 | 0.080 | 11 | 119025298 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1997 | 2011 | |||||
|
1 | 1.000 | 0.080 | 11 | 119029288 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.800 | 1.000 | 8 | 1998 | 2014 | |||
|
1 | 1.000 | 0.080 | 11 | 119029311 | missense variant | C/G;T | snv | 1.6E-05 | 1.4E-05 | 0.800 | 1.000 | 5 | 1998 | 2014 | |||
|
1 | 1.000 | 0.080 | 11 | 119027681 | missense variant | G/A | snv | 0.800 | 1.000 | 5 | 2000 | 2008 | |||||
|
1 | 1.000 | 0.080 | 11 | 119027806 | missense variant | C/T | snv | 1.4E-05 | 0.800 | 1.000 | 3 | 2002 | 2014 | ||||
|
2 | 1.000 | 0.080 | 11 | 119029300 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 2002 | 2008 | |||||
|
1 | 1.000 | 0.080 | 11 | 119026985 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 11 | 119025215 | missense variant | C/T | snv | 5.6E-05 | 2.1E-05 | 0.700 | 1.000 | 21 | 1997 | 2014 | |||
|
1 | 1.000 | 0.080 | 11 | 119025196 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 20 | 1997 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 119027035 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 20 | 1997 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 119026052 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1997 | 2011 | |||||
|
3 | 0.925 | 0.080 | 11 | 119025271 | frameshift variant | AG/- | del | 1.7E-04 | 2.5E-04 | 0.700 | 1.000 | 10 | 1998 | 2017 | |||
|
1 | 1.000 | 0.080 | 11 | 119026979 | stop gained | G/A | snv | 2.4E-05 | 0.700 | 1.000 | 6 | 1998 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 119026016 | protein altering variant | -/CCAGCCATCATG | delins | 4.2E-06 | 7.0E-06 | 0.700 | 1.000 | 5 | 1998 | 2014 | |||
|
2 | 0.925 | 0.080 | 11 | 119028288 | stop gained | C/T | snv | 8.4E-06 | 0.700 | 1.000 | 4 | 1998 | 2005 | ||||
|
1 | 1.000 | 0.080 | 11 | 119029369 | start lost | T/C | snv | 4.1E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 1999 | 2004 | |||
|
1 | 1.000 | 0.080 | 11 | 119027069 | stop gained | G/A | snv | 8.1E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 1998 | 2010 | |||
|
1 | 1.000 | 0.080 | 11 | 119028215 | frameshift variant | -/G | delins | 8.8E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2000 | 2000 | |||
|
1 | 1.000 | 0.080 | 11 | 119025190 | splice donor variant | C/A;G | snv | 1.2E-05 | 0.700 | 1.000 | 2 | 1998 | 2000 | ||||
|
1 | 1.000 | 0.080 | 11 | 119027658 | frameshift variant | G/- | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 11 | 119027873 | splice acceptor variant | C/- | del | 0.700 | 1.000 | 1 | 2009 | 2009 |