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 | 0.925 | 0.080 | 16 | 67942921 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 0.710 | 1.000 | 1 | 1992 | 2011 | |||
|
4 | 0.851 | 0.120 | 18 | 55543071 | intron variant | G/T | snv | 0.88 | 0.030 | 1.000 | 3 | 2012 | 2015 | ||||
|
2 | 0.925 | 0.080 | 18 | 55440221 | intron variant | G/C | snv | 6.2E-02 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
2 | 0.925 | 0.120 | 18 | 55871026 | downstream gene variant | T/G | snv | 0.16 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.080 | 2 | 28598048 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
4 | 0.925 | 0.120 | 8 | 27595330 | downstream gene variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 18 | 56050233 | intron variant | C/T | snv | 0.10 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 16 | 67942567 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
1 | 1.000 | 0.080 | 16 | 67944067 | missense variant | G/A | snv | 1.6E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 2 | 28563068 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.080 | 16 | 67942703 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 |