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 | 21 | 42919268 | non coding transcript exon variant | T/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 10 | 34275364 | intron variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 21 | 38824464 | 3 prime UTR variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 21 | 45531505 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 7 | 19117256 | synonymous variant | T/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.120 | 21 | 45531596 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 7 | 78629694 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 21 | 45531476 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.120 | 21 | 38822292 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 21 | 36744739 | synonymous variant | G/A;T | snv | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 21 | 36745007 | missense variant | C/A;T | snv | 0.28; 2.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 1 | 3707661 | missense variant | C/G | snv | 4.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.120 | 7 | 78366115 | intron variant | A/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | 21 | 43072114 | missense variant | C/A;T | snv | 8.1E-06; 8.1E-06 | 0.050 | 1.000 | 5 | 2005 | 2017 | ||||
|
3 | 0.882 | 0.160 | 21 | 43066299 | missense variant | C/T | snv | 8.0E-06 | 0.050 | 1.000 | 5 | 2005 | 2017 | ||||
|
3 | 0.882 | 0.160 | 13 | 77918396 | missense variant | C/G;T | snv | 4.1E-06; 2.1E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.882 | 0.160 | 10 | 43086825 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.160 | 21 | 29598863 | synonymous variant | G/A | snv | 0.18 | 0.17 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.160 | 21 | 29553607 | stop gained | A/G;T | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 21 | 29689750 | synonymous variant | T/A;G | snv | 0.20 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 21 | 38819714 | synonymous variant | A/G;T | snv | 0.72; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.160 | 13 | 77903530 | synonymous variant | G/A | snv | 5.5E-03 | 1.1E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
3 | 0.925 | 0.120 | 7 | 78174806 | intron variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | 3 | 9934538 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 5 | 173235071 | missense variant | G/A | snv | 6.7E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |