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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.200 | 20 | 4699752 | missense variant | G/A | snv | 0.800 | 0.972 | 36 | 1992 | 2019 | |||||
|
25 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.740 | 1.000 | 4 | 2001 | 2017 | ||||
|
2 | 0.925 | 0.120 | 17 | 80192587 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.030 | 0.667 | 3 | 1996 | 1998 | |||
|
23 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 0.020 | 1.000 | 2 | 1993 | 2003 | |||
|
1 | 1.000 | 0.080 | 2 | 63604822 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 21 | 26051052 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 19 | 34377518 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
11 | 0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.851 | 0.160 | 3 | 141619799 | downstream gene variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 5 | 116488915 | missense variant | C/A;T | snv | 4.8E-06; 1.1E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
25 | 0.677 | 0.480 | 5 | 160467840 | intron variant | A/G | snv | 7.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 20 | 4696723 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
15 | 0.732 | 0.240 | 20 | 4699848 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
1 | 1.000 | 0.080 | 17 | 45983333 | missense variant | G/A | snv | 4.5E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.120 | 7 | 30922174 | frameshift variant | G/- | delins | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |