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 | 17 | 61483470 | missense variant | A/G | snv | 0.800 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.040 | 17 | 61479921 | missense variant | G/T | snv | 0.800 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.040 | 17 | 61456674 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 61465891 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
7 | 0.807 | 0.280 | 1 | 156899255 | intron variant | G/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 19 | 55030031 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 19 | 55018667 | missense variant | C/G;T | snv | 4.0E-06; 0.81 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.160 | 19 | 55014977 | missense variant | T/G | snv | 0.85 | 0.81 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 19 | 55015821 | intron variant | G/T | snv | 0.74 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 17 | 72122794 | missense variant | C/G;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 19 | 55015713 | missense variant | C/T | snv | 0.80 | 0.74 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.827 | 0.200 | 8 | 42182845 | missense variant | G/A | snv | 4.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.120 | 17 | 61467615 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 13 | 113872798 | upstream gene variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |