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 | 19 | 45128558 | intron variant | G/A | snv | 9.9E-02 | 0.800 | 1.000 | 3 | 2011 | 2018 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.720 | 1.000 | 3 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.080 | 19 | 45131424 | intron variant | G/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 19 | 45147128 | 3 prime UTR variant | C/T | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 19 | 45133061 | intron variant | C/A | snv | 9.5E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 19 | 45132943 | intron variant | C/T | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 14 | 93925359 | missense variant | A/T | snv | 1.6E-02 | 1.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 19 | 45102050 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 19 | 45098343 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 19 | 45125846 | intron variant | A/G | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 19 | 45137507 | intron variant | G/C | snv | 7.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.851 | 0.080 | 12 | 9079672 | missense variant | T/C | snv | 0.31 | 0.33 | 0.070 | 0.714 | 7 | 1999 | 2014 | |||
|
2 | 0.925 | 0.080 | 12 | 9093581 | splice acceptor variant | ATGGT/- | delins | 0.010 | 1.000 | 1 | 2014 | 2014 |