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 | |||||
|
3 | 0.882 | 0.200 | 7 | 140801536 | missense variant | C/G | snv | 0.810 | 1.000 | 6 | 2006 | 2014 | |||||
|
6 | 0.807 | 0.280 | 7 | 140801537 | missense variant | T/A;C;G | snv | 4.0E-06 | 0.810 | 1.000 | 3 | 2009 | 2014 | ||||
|
1 | 1.000 | 0.160 | 7 | 140778013 | missense variant | T/C | snv | 0.810 | 1.000 | 2 | 2008 | 2014 | |||||
|
9 | 0.790 | 0.360 | 7 | 140754187 | missense variant | T/C;G | snv | 0.800 | 1.000 | 13 | 2006 | 2014 | |||||
|
1 | 1.000 | 0.160 | 7 | 140781605 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 8 | 2006 | 2009 | ||||
|
34 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 7 | 2006 | 2016 | ||||
|
13 | 0.790 | 0.400 | 7 | 140753348 | missense variant | C/A;T | snv | 0.800 | 1.000 | 7 | 2006 | 2009 | |||||
|
2 | 0.925 | 0.200 | 7 | 140778053 | missense variant | C/A;G | snv | 0.800 | 1.000 | 6 | 2006 | 2014 | |||||
|
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 | |||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 4 | 2006 | 2009 | ||||
|
1 | 1.000 | 0.160 | 7 | 140781609 | missense variant | A/C | snv | 0.800 | 1.000 | 4 | 2006 | 2009 | |||||
|
8 | 0.827 | 0.280 | 15 | 66436843 | missense variant | A/G | snv | 4.0E-06 | 0.720 | 1.000 | 14 | 2006 | 2018 | ||||
|
14 | 0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv | 0.710 | 1.000 | 7 | 2006 | 2008 | |||||
|
2 | 0.925 | 0.200 | 7 | 140778054 | missense variant | A/G | snv | 0.710 | 1.000 | 3 | 2007 | 2012 | |||||
|
3 | 0.882 | 0.200 | 19 | 4110583 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2015 | 2015 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.827 | 0.320 | 12 | 25245345 | missense variant | C/T | snv | 0.700 | 1.000 | 6 | 2006 | 2011 | |||||
|
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 | |||||
|
6 | 0.807 | 0.320 | 15 | 66435145 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2007 | 2014 |