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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.776 | 0.080 | 10 | 8697617 | intergenic variant | T/A | snv | 0.25 | 0.810 | 1.000 | 6 | 2014 | 2019 | ||||
|
9 | 0.790 | 0.080 | 12 | 4259186 | intron variant | T/C | snv | 0.54 | 0.810 | 1.000 | 5 | 2013 | 2019 | ||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.810 | 1.000 | 4 | 2014 | 2018 | ||||
|
9 | 0.790 | 0.080 | 11 | 74634505 | intron variant | T/G | snv | 0.40 | 0.810 | 1.000 | 4 | 2012 | 2019 | ||||
|
9 | 0.790 | 0.080 | 8 | 116635549 | regulatory region variant | G/A;C | snv | 0.810 | 1.000 | 3 | 2014 | 2019 | |||||
|
9 | 0.790 | 0.080 | 10 | 99585609 | intergenic variant | C/T | snv | 0.15 | 0.810 | 1.000 | 2 | 2014 | 2019 | ||||
|
10 | 0.776 | 0.160 | 12 | 114678547 | intron variant | T/A;G | snv | 0.49 | 0.810 | 0.500 | 2 | 2013 | 2014 | ||||
|
16 | 0.732 | 0.120 | 6 | 160419220 | intron variant | G/A;T | snv | 0.810 | 0.500 | 2 | 2011 | 2013 | |||||
|
9 | 0.790 | 0.080 | X | 9783434 | intron variant | T/C | snv | 0.50 | 0.810 | 1.000 | 1 | 2012 | 2012 | ||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.800 | 0.861 | 36 | 1997 | 2017 | |||
|
32 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.800 | 1.000 | 17 | 2002 | 2019 | |||
|
31 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.800 | 0.941 | 17 | 2002 | 2019 | |||
|
34 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 14 | 2002 | 2015 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.800 | 0.923 | 13 | 1999 | 2020 | ||||
|
1 | 1.000 | 0.080 | 8 | 17589479 | missense variant | C/T | snv | 0.800 | 1.000 | 11 | 1995 | 2015 | |||||
|
26 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 10 | 2006 | 2015 | |||||
|
1 | 1.000 | 0.080 | 7 | 140781623 | missense variant | C/A | snv | 0.800 | 1.000 | 10 | 2006 | 2015 | |||||
|
1 | 1.000 | 0.080 | 7 | 140781620 | missense variant | A/C | snv | 0.800 | 1.000 | 10 | 2006 | 2015 | |||||
|
20 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 4 | 2002 | 2014 | |||||
|
23 | 0.708 | 0.400 | 11 | 61785208 | non coding transcript exon variant | G/T | snv | 0.28 | 0.800 | 1.000 | 4 | 2014 | 2019 | ||||
|
10 | 0.790 | 0.080 | 20 | 7831703 | downstream gene variant | T/C | snv | 0.29 | 0.800 | 1.000 | 4 | 2013 | 2019 | ||||
|
10 | 0.776 | 0.080 | 12 | 4279105 | intron variant | C/T | snv | 8.7E-02 | 0.800 | 1.000 | 4 | 2013 | 2019 | ||||
|
10 | 0.790 | 0.080 | 20 | 62394395 | intron variant | C/T | snv | 0.22 | 0.800 | 1.000 | 3 | 2014 | 2019 | ||||
|
9 | 0.790 | 0.080 | 15 | 32720301 | intron variant | A/G | snv | 0.25 | 0.800 | 1.000 | 3 | 2014 | 2019 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 2005 | 2005 |