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 | 14 | 23418398 | missense variant | G/A;T | snv | 2.8E-05; 1.1E-04 | 0.700 | 1.000 | 27 | 1992 | 2017 | ||||
|
1 | 1.000 | 0.080 | 14 | 23415228 | missense variant | T/C | snv | 3.2E-05 | 6.3E-05 | 0.700 | 1.000 | 27 | 1992 | 2017 | |||
|
1 | 1.000 | 0.080 | 14 | 23423984 | missense variant | C/T | snv | 0.700 | 1.000 | 25 | 1992 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23424026 | missense variant | C/T | snv | 0.800 | 1.000 | 25 | 1992 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23428546 | missense variant | A/G | snv | 0.800 | 1.000 | 25 | 1992 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23425780 | missense variant | T/G | snv | 0.800 | 1.000 | 25 | 1992 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23425346 | missense variant | G/A | snv | 5.6E-05 | 8.4E-05 | 0.700 | 1.000 | 23 | 1992 | 2014 | |||
|
1 | 1.000 | 0.080 | 14 | 23429867 | missense variant | A/G | snv | 2.1E-05 | 0.700 | 1.000 | 20 | 1992 | 2005 | ||||
|
1 | 1.000 | 0.080 | 14 | 23425798 | missense variant | G/A | snv | 1.6E-04 | 9.1E-05 | 0.700 | 1.000 | 20 | 1992 | 2005 | |||
|
1 | 1.000 | 0.080 | 14 | 23415225 | missense variant | C/T | snv | 6.8E-05 | 9.1E-05 | 0.700 | 1.000 | 20 | 1992 | 2005 | |||
|
1 | 1.000 | 0.080 | 14 | 23417616 | missense variant | G/T | snv | 0.700 | 1.000 | 20 | 1992 | 2005 | |||||
|
1 | 1.000 | 0.080 | 14 | 23428583 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1992 | 2005 | |||||
|
1 | 1.000 | 0.080 | 14 | 23424050 | stop gained | C/A;T | snv | 0.700 | 1.000 | 20 | 1992 | 2005 | |||||
|
1 | 1.000 | 0.080 | 14 | 23422256 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2005 | |||
|
1 | 1.000 | 0.080 | 14 | 23416975 | missense variant | T/A | snv | 0.700 | 1.000 | 20 | 1992 | 2005 | |||||
|
1 | 1.000 | 0.080 | 14 | 23415252 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1992 | 2005 | |||||
|
1 | 1.000 | 0.080 | 14 | 23415407 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2005 | ||||
|
1 | 1.000 | 0.080 | 14 | 23433558 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2005 | ||||
|
1 | 1.000 | 0.080 | 14 | 23426039 | missense variant | T/C | snv | 0.700 | 1.000 | 5 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23431844 | missense variant | C/G | snv | 0.700 | 1.000 | 5 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23425756 | missense variant | G/C;T | snv | 0.700 | 1.000 | 5 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23430583 | missense variant | C/G;T | snv | 8.8E-05; 4.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.080 | 14 | 23433618 | missense variant | C/T | snv | 4.8E-05 | 5.6E-05 | 0.700 | 1.000 | 3 | 2003 | 2014 | |||
|
1 | 1.000 | 0.080 | 14 | 23413763 | missense variant | G/A | snv | 2.4E-05 | 9.8E-05 | 0.700 | 1.000 | 3 | 2003 | 2014 | |||
|
1 | 1.000 | 0.080 | 14 | 23425790 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |