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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.160 | 17 | 27762841 | synonymous variant | T/C | snv | 0.66 | 0.67 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.120 | 9 | 21304804 | synonymous variant | G/A | snv | 0.25 | 0.27 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.827 | 0.120 | 17 | 40422984 | intergenic variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 58782321 | synonymous variant | C/T | snv | 5.3E-02 | 9.7E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
7 | 0.807 | 0.200 | 17 | 39926554 | 5 prime UTR variant | T/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.080 | 5 | 135896167 | upstream gene variant | T/C;G | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
23 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
36 | 0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 2 | 138964859 | intron variant | G/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 2 | 102349607 | intron variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.120 | 5 | 135892476 | missense variant | G/A;C | snv | 0.11 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.200 | X | 12920993 | synonymous variant | G/A;C | snv | 0.54 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
48 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.882 | 0.120 | 4 | 38773268 | missense variant | T/A;C;G | snv | 0.17 | 0.13 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
25 | 0.677 | 0.360 | 4 | 38797027 | missense variant | C/A | snv | 0.53 | 0.51 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
19 | 0.742 | 0.280 | 19 | 48703417 | stop gained | G/A | snv | 0.38 | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
14 | 0.732 | 0.440 | 17 | 39913696 | intron variant | C/T | snv | 0.60 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
34 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 |