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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 4 | 10042307 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
13 | 0.752 | 0.400 | 4 | 88139962 | missense variant | C/T | snv | 0.11 | 7.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.160 | 4 | 81141777 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
19 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 4 | 81148295 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.120 | 4 | 9964756 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 5 | 2008 | 2013 | ||||
|
7 | 0.851 | 0.200 | 4 | 9934286 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 4 | 2007 | 2013 | ||||
|
7 | 0.851 | 0.240 | 4 | 9933120 | intron variant | G/A;T | snv | 0.700 | 1.000 | 4 | 2008 | 2013 | |||||
|
3 | 0.925 | 0.120 | 4 | 10125817 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2010 | 2013 | |||||
|
3 | 0.925 | 0.120 | 4 | 9982851 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 4 | 10034516 | non coding transcript exon variant | C/A | snv | 0.78 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 4 | 88172856 | intron variant | C/T | snv | 0.58 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 4 | 10004913 | intron variant | C/A | snv | 0.72 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 4 | 10003208 | intron variant | A/G | snv | 0.72 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 4 | 9983382 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 4 | 10080532 | intron variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2010 | 2013 | |||||
|
3 | 0.925 | 0.120 | 4 | 10122317 | intergenic variant | T/C | snv | 0.18 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 4 | 9973014 | intron variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2010 | 2013 | |||||
|
3 | 0.925 | 0.120 | 4 | 9949597 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
2 | 0.925 | 0.120 | 11 | 64627780 | intron variant | G/C | snv | 0.51 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 4 | 9918723 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
2 | 0.925 | 0.120 | 11 | 64792426 | splice region variant | T/C | snv | 0.37 | 0.30 | 0.700 | 1.000 | 3 | 2010 | 2013 | |||
|
3 | 0.925 | 0.120 | 4 | 9996816 | synonymous variant | C/G;T | snv | 1.2E-05; 0.70 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
3 | 0.925 | 0.120 | 4 | 10036004 | non coding transcript exon variant | T/C | snv | 0.43 | 0.700 | 1.000 | 3 | 2010 | 2013 |