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 | 3 | 15645186 | missense variant | G/C;T | snv | 3.2E-02 | 0.860 | 0.926 | 20 | 1997 | 2019 | ||||
|
1 | 1.000 | 0.080 | 3 | 15645224 | missense variant | A/C | snv | 4.1E-04 | 4.5E-04 | 0.800 | 1.000 | 18 | 1997 | 2017 | |||
|
1 | 1.000 | 0.080 | 3 | 15644367 | missense variant | G/A | snv | 3.3E-04 | 3.8E-04 | 0.800 | 1.000 | 9 | 1997 | 2017 | |||
|
1 | 1.000 | 0.080 | 3 | 15645451 | missense variant | C/T | snv | 6.9E-05 | 9.8E-05 | 0.800 | 1.000 | 8 | 1997 | 2012 | |||
|
3 | 0.925 | 0.080 | 3 | 15645468 | missense variant | C/A;T | snv | 3.3E-05; 7.5E-05 | 0.800 | 1.000 | 6 | 1997 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 15641980 | missense variant | T/G | snv | 0.800 | 1.000 | 1 | 1997 | 2012 | |||||
|
1 | 1.000 | 0.080 | 3 | 15644538 | missense variant | G/T | snv | 4.0E-06 | 0.800 | 1.000 | 1 | 1997 | 1998 | ||||
|
1 | 1.000 | 0.080 | 3 | 15645208 | missense variant | G/A;T | snv | 8.0E-06 | 0.800 | 1.000 | 1 | 1997 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 15644326 | missense variant | G/A | snv | 1.1E-04 | 1.5E-04 | 0.710 | 1.000 | 10 | 1997 | 2018 | |||
|
1 | 1.000 | 0.080 | 3 | 15635614 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.710 | 1.000 | 3 | 2000 | 2016 | |||
|
1 | 1.000 | 0.080 | 3 | 15645170 | stop gained | T/A | snv | 0.710 | 1.000 | 2 | 2001 | 2019 | |||||
|
1 | 1.000 | 0.080 | 3 | 15645345 | missense variant | C/T | snv | 2.4E-05 | 1.1E-04 | 0.700 | 1.000 | 11 | 1999 | 2016 | |||
|
1 | 1.000 | 0.080 | 3 | 15644611 | missense variant | A/G | snv | 4.4E-05 | 5.6E-05 | 0.700 | 1.000 | 9 | 1999 | 2017 | |||
|
1 | 1.000 | 0.080 | 3 | 15644413 | missense variant | G/A | snv | 2.0E-05 | 0.700 | 1.000 | 9 | 2000 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 15644789 | frameshift variant | T/- | del | 4.2E-05 | 0.700 | 1.000 | 8 | 1997 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 15644451 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 | 0.700 | 1.000 | 7 | 2003 | 2017 | |||
|
1 | 1.000 | 0.080 | 3 | 15635479 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 0.700 | 1.000 | 6 | 1997 | 2017 | |||
|
1 | 1.000 | 0.080 | 3 | 15644443 | frameshift variant | C/- | del | 0.700 | 1.000 | 6 | 1997 | 2014 | |||||
|
1 | 1.000 | 0.080 | 3 | 15644499 | missense variant | C/G;T | snv | 8.0E-06; 2.0E-05 | 0.700 | 1.000 | 6 | 1997 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 15635657 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2003 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 15645195 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2008 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 15645485 | missense variant | C/A;G | snv | 5.9E-05; 4.2E-06 | 0.700 | 1.000 | 4 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.080 | 3 | 15641939 | missense variant | G/T | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 2005 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 15642022 | missense variant | C/A | snv | 0.700 | 1.000 | 4 | 2009 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 15644384 | missense variant | G/T | snv | 9.5E-05 | 2.1E-05 | 0.700 | 1.000 | 4 | 1999 | 2016 |