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 | 0.080 | 4 | 99126778 | intron variant | G/A | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.851 | 0.080 | 11 | 18025708 | splice region variant | G/A;T | snv | 0.39 | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.080 | 17 | 8152405 | missense variant | A/G | snv | 0.38 | 0.17 | 0.020 | 1.000 | 2 | 2011 | 2015 | |||
|
1 | 1.000 | 0.080 | 11 | 20601429 | missense variant | G/A | snv | 0.37 | 0.38 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
20 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 0.050 | 1.000 | 5 | 2012 | 2018 | ||||
|
12 | 0.807 | 0.240 | 4 | 99342808 | missense variant | C/T | snv | 0.34 | 0.31 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.020 | 1.000 | 2 | 2011 | 2013 | |||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
8 | 0.776 | 0.200 | 12 | 13564574 | synonymous variant | G/A | snv | 0.32 | 0.24 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
19 | 0.742 | 0.280 | 16 | 55697923 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.080 | 1.000 | 8 | 1998 | 2019 | |||
|
6 | 0.807 | 0.160 | 1 | 35902179 | intron variant | A/G | snv | 0.30 | 0.37 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 1.000 | 0.080 | 4 | 99344976 | synonymous variant | T/A;C | snv | 4.0E-06; 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.827 | 0.120 | 1 | 36859876 | missense variant | A/C;G | snv | 0.27; 9.2E-05 | 0.020 | 0.500 | 2 | 2006 | 2013 | ||||
|
37 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 15 | 38696614 | non coding transcript exon variant | C/G;T | snv | 0.26; 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 15 | 38696559 | intron variant | T/A | snv | 0.26 | 0.26 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.160 | 11 | 35306201 | synonymous variant | C/T | snv | 0.23 | 0.22 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
3 | 0.882 | 0.200 | 21 | 44288394 | synonymous variant | C/T | snv | 0.21 | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.900 | 10 | 2005 | 2018 | |||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.100 | 0.893 | 28 | 1998 | 2019 | |||
|
6 | 0.807 | 0.440 | 6 | 29608616 | missense variant | A/C;G | snv | 4.1E-06; 0.18 | 0.010 | < 0.001 | 1 | 2006 | 2006 |