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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.070 | 0.857 | 7 | 2001 | 2019 | |||||
|
16 | 0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2007 | 2010 | |||||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2002 | 2017 | |||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2001 | 2019 | |||||
|
10 | 0.827 | 0.240 | 15 | 89320883 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2007 | 2013 | |||||
|
21 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
3 | 0.925 | 0.120 | 17 | 46010401 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2004 | 2005 | |||||
|
16 | 0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2003 | 2007 | |||||
|
4 | 0.925 | 0.200 | 2 | 74378123 | missense variant | A/C | snv | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||
|
6 | 0.925 | 0.040 | 12 | 119869138 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | X | 43743818 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.040 | 12 | 122811747 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | X | 78117385 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1 | 20633841 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 0.925 | 0.160 | 19 | 15180807 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.776 | 0.160 | 16 | 46662452 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 1 | 171863954 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.752 | 0.200 | 17 | 45942346 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.120 | 17 | 45637484 | non coding transcript exon variant | G/A;C;T | snv | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.160 | 16 | 50732975 | 3 prime UTR variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.807 | 0.080 | 12 | 40310435 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.827 | 0.120 | 12 | 40321114 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1 | 20649062 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
5 | 0.925 | 0.080 | 14 | 73198106 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.851 | 0.120 | 17 | 46010373 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2001 | 2001 |