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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.776 | 0.160 | 14 | 81143407 | missense variant | G/A;T | snv | 2.3E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
13 | 0.807 | 0.200 | 5 | 77222617 | intron variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.160 | 2 | 1496155 | missense variant | A/C;G | snv | 0.43 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.160 | 14 | 80955802 | missense variant | G/C | snv | 4.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.120 | 14 | 81143638 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 14 | 81143649 | missense variant | C/G;T | snv | 4.0E-06; 2.8E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 15 | 45106240 | missense variant | T/C | snv | 9.8E-02 | 0.17 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.160 | 16 | 56880142 | missense variant | G/A | snv | 2.5E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 15 | 45099449 | missense variant | T/C | snv | 6.0E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 15 | 45100816 | missense variant | G/A;C;T | snv | 4.0E-06; 5.0E-02; 1.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 |