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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.708 | 0.280 | 15 | 48505106 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 13 | 1973 | 2015 | ||||
|
9 | 0.763 | 0.200 | 15 | 48468097 | missense variant | G/A | snv | 0.700 | 1.000 | 12 | 2000 | 2016 | |||||
|
2 | 0.925 | 0.160 | 15 | 48444648 | missense variant | C/T | snv | 0.700 | 1.000 | 11 | 1973 | 2008 | |||||
|
2 | 0.925 | 0.160 | 15 | 48508660 | missense variant | A/C | snv | 0.700 | 1.000 | 10 | 1973 | 2015 | |||||
|
2 | 0.925 | 0.160 | 15 | 48600195 | missense variant | C/T | snv | 0.700 | 1.000 | 10 | 1973 | 2012 | |||||
|
2 | 0.925 | 0.160 | 15 | 48488412 | missense variant | C/T | snv | 0.700 | 1.000 | 10 | 1973 | 2007 | |||||
|
4 | 0.851 | 0.160 | 3 | 30674228 | missense variant | C/T | snv | 0.700 | 1.000 | 9 | 2005 | 2016 | |||||
|
2 | 0.925 | 0.160 | 15 | 48497316 | missense variant | C/T | snv | 0.700 | 1.000 | 9 | 2002 | 2018 | |||||
|
2 | 0.925 | 0.160 | 15 | 48489896 | missense variant | C/G;T | snv | 0.700 | 1.000 | 9 | 1995 | 2011 | |||||
|
3 | 0.882 | 0.160 | 15 | 48420780 | missense variant | G/A | snv | 0.700 | 1.000 | 9 | 1973 | 2016 | |||||
|
2 | 0.925 | 0.160 | 15 | 48470745 | missense variant | A/G;T | snv | 0.700 | 1.000 | 9 | 1973 | 2014 | |||||
|
2 | 0.925 | 0.160 | 15 | 48496177 | missense variant | C/T | snv | 0.700 | 1.000 | 9 | 1973 | 2015 | |||||
|
2 | 0.925 | 0.160 | 15 | 48600181 | missense variant | A/G | snv | 0.700 | 1.000 | 9 | 1973 | 2015 | |||||
|
2 | 0.925 | 0.160 | 15 | 48448773 | missense variant | C/A | snv | 0.700 | 1.000 | 9 | 1973 | 2010 | |||||
|
2 | 0.925 | 0.160 | 15 | 48445492 | missense variant | C/G;T | snv | 0.700 | 1.000 | 9 | 1973 | 2015 | |||||
|
2 | 0.925 | 0.160 | 15 | 48494210 | missense variant | A/G | snv | 0.700 | 1.000 | 8 | 2002 | 2015 | |||||
|
2 | 0.925 | 0.160 | 15 | 48421997 | missense variant | A/C | snv | 0.700 | 1.000 | 8 | 1973 | 2016 | |||||
|
2 | 0.925 | 0.160 | 15 | 48448812 | missense variant | C/T | snv | 0.700 | 1.000 | 8 | 1973 | 2012 | |||||
|
2 | 0.925 | 0.160 | 15 | 48503845 | stop gained | G/A;C;T | snv | 7.6E-04 | 0.700 | 1.000 | 8 | 2000 | 2016 | ||||
|
2 | 0.925 | 0.160 | 15 | 48441835 | missense variant | A/G | snv | 0.700 | 1.000 | 8 | 1973 | 2015 | |||||
|
2 | 0.925 | 0.160 | 15 | 48492538 | missense variant | C/T | snv | 0.700 | 1.000 | 8 | 1973 | 2011 | |||||
|
9 | 0.763 | 0.200 | 15 | 48515393 | missense variant | A/G | snv | 0.700 | 1.000 | 8 | 1973 | 2008 | |||||
|
2 | 0.925 | 0.160 | 15 | 48425480 | missense variant | A/G | snv | 0.700 | 1.000 | 8 | 1973 | 2007 | |||||
|
9 | 0.763 | 0.200 | 15 | 48430736 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 8 | 1999 | 2016 | ||||
|
2 | 0.925 | 0.160 | 15 | 48613009 | splice donor variant | C/A;T | snv | 0.700 | 1.000 | 8 | 1993 | 2013 |