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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
35 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.810 | 1.000 | 20 | 2006 | 2018 | |||||
|
9 | 0.790 | 0.360 | 7 | 140754187 | missense variant | T/C;G | snv | 0.800 | 1.000 | 13 | 2006 | 2014 | |||||
|
14 | 0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv | 0.710 | 1.000 | 7 | 2006 | 2008 | |||||
|
13 | 0.790 | 0.400 | 7 | 140753348 | missense variant | C/A;T | snv | 0.800 | 1.000 | 7 | 2006 | 2009 | |||||
|
9 | 0.827 | 0.320 | 12 | 25245345 | missense variant | C/T | snv | 0.700 | 1.000 | 6 | 2006 | 2011 | |||||
|
3 | 0.882 | 0.200 | 7 | 140801536 | missense variant | C/G | snv | 0.810 | 1.000 | 6 | 2006 | 2014 | |||||
|
2 | 0.925 | 0.200 | 7 | 140778053 | missense variant | C/A;G | snv | 0.800 | 1.000 | 6 | 2006 | 2014 | |||||
|
12 | 0.851 | 0.160 | 7 | 140778006 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 6 | 2006 | 2008 | |||||
|
6 | 0.827 | 0.280 | 15 | 66436825 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 6 | 2007 | 2017 | |||||
|
2 | 0.925 | 0.160 | 15 | 66436842 | missense variant | T/C | snv | 0.700 | 1.000 | 6 | 2006 | 2018 | |||||
|
5 | 0.851 | 0.280 | 7 | 140753350 | missense variant | A/C;T | snv | 0.800 | 1.000 | 5 | 2006 | 2012 | |||||
|
7 | 0.851 | 0.240 | 7 | 140753339 | missense variant | G/A;C | snv | 0.800 | 1.000 | 5 | 2006 | 2014 | |||||
|
8 | 0.807 | 0.280 | 7 | 140749365 | missense variant | A/C;T | snv | 0.800 | 1.000 | 5 | 2006 | 2014 | |||||
|
6 | 0.807 | 0.280 | 7 | 140801551 | missense variant | T/G | snv | 0.800 | 1.000 | 5 | 2006 | 2009 | |||||
|
6 | 0.807 | 0.320 | 15 | 66435145 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2007 | 2014 | |||||
|
9 | 0.776 | 0.400 | 12 | 25245284 | missense variant | G/A;C | snv | 0.700 | 1.000 | 4 | 1993 | 2011 | |||||
|
20 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 4 | 2003 | 2008 | |||||
|
4 | 0.851 | 0.200 | 7 | 140778007 | missense variant | C/G;T | snv | 0.700 | 1.000 | 4 | 2006 | 2012 | |||||
|
1 | 1.000 | 0.160 | 7 | 140801488 | missense variant | G/T | snv | 0.700 | 1.000 | 4 | 2006 | 2009 | |||||
|
4 | 0.882 | 0.200 | 7 | 140778011 | missense variant | T/A;G | snv | 0.700 | 1.000 | 4 | 2006 | 2009 | |||||
|
1 | 1.000 | 0.160 | 7 | 140739813 | missense variant | T/C | snv | 0.700 | 1.000 | 4 | 2006 | 2009 | |||||
|
2 | 0.925 | 0.200 | 19 | 4110558 | missense variant | T/C | snv | 0.700 | 1.000 | 4 | 2007 | 2018 | |||||
|
1 | 1.000 | 0.160 | 7 | 140781609 | missense variant | A/C | snv | 0.800 | 1.000 | 4 | 2006 | 2009 | |||||
|
5 | 0.851 | 0.200 | 12 | 25227346 | missense variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2006 | 2011 | |||||
|
5 | 0.851 | 0.240 | 7 | 140777006 | missense variant | C/G | snv | 0.700 | 1.000 | 3 | 2006 | 2008 |