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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 9 | 95480007 | synonymous variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
3 | 0.925 | 0.200 | 4 | 54727515 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 12 | 57467380 | synonymous variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 12 | 57465648 | missense variant | G/A;C | snv | 0.50 | 0.47 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
13 | 0.732 | 0.240 | 4 | 54727298 | missense variant | A/C;G;T | snv | 7.7E-02; 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 7 | 106867617 | missense variant | G/A | snv | 1.6E-05 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 7 | 129205241 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 7 | 155803713 | synonymous variant | C/T | snv | 8.8E-06 | 3.5E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 |