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 | 0.040 | 7 | 103490698 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.040 | 7 | 103489956 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.240 | 7 | 103764368 | intron variant | G/A | snv | 0.17 | 0.860 | 0.857 | 7 | 2008 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 103757660 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 7 | 103719273 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 103819488 | intron variant | T/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 103574673 | intron variant | T/A | snv | 0.75 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 7 | 103539148 | synonymous variant | A/G | snv | 3.8E-02 | 2.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.040 | 7 | 103545430 | intron variant | C/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 7 | 103785668 | intron variant | A/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 7 | 103936441 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |