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 | 0.120 | 4 | 174733072 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.020 | 0.500 | 2 | 2006 | 2018 | ||||
|
3 | 0.882 | 0.200 | 6 | 32332045 | stop gained | G/A | snv | 0.19 | 0.23 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
7 | 0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 | 0.810 | 1.000 | 3 | 2007 | 2017 | ||||
|
1 | 1.000 | 0.120 | 6 | 30364778 | upstream gene variant | T/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.120 | 6 | 32830954 | intron variant | C/G;T | snv | 0.28 | 0.800 | 1.000 | 2 | 2007 | 2015 | ||||
|
9 | 0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 2 | 3550384 | synonymous variant | T/C | snv | 0.33 | 0.41 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.851 | 0.240 | 5 | 132393705 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.200 | 2 | 203936863 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.120 | 10 | 70598292 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 7 | 94402493 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.882 | 0.200 | 7 | 50409515 | downstream gene variant | T/C | snv | 0.24 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 7 | 50961290 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.240 | 4 | 76001835 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
8 | 0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
25 | 0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.200 | 6 | 32867481 | regulatory region variant | T/G | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
8 | 0.790 | 0.280 | 14 | 35292469 | 5 prime UTR variant | C/G;T | snv | 0.19; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 12 | 9733403 | upstream gene variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.776 | 0.480 | 5 | 132340627 | missense variant | C/T | snv | 0.29 | 0.28 | 0.020 | 1.000 | 2 | 2006 | 2008 | |||
|
2 | 0.925 | 0.160 | 10 | 88263276 | upstream gene variant | T/C | snv | 0.25 | 0.810 | 1.000 | 2 | 2009 | 2012 | ||||
|
4 | 0.882 | 0.160 | 4 | 26083889 | intron variant | G/A | snv | 0.27 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.200 | 6 | 31642909 | missense variant | A/G | snv | 0.51 | 0.44 | 0.700 | 1.000 | 1 | 2007 | 2007 |