Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | X | 153634467 | regulatory region variant | A/G | snv | 0.25 |
|
0.810 | 1.000 | 4 | 2010 | 2014 | ||||||||
|
1.000 | 0.080 | X | 153597180 | intron variant | A/G | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.120 | 20 | 44360627 | intron variant | G/A | snv | 0.18 |
|
0.830 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
1.000 | 0.080 | 20 | 44318326 | intergenic variant | T/G | snv | 0.30 |
|
0.810 | 0.667 | 2 | 2011 | 2017 | ||||||||
|
1.000 | 0.080 | 20 | 45877779 | synonymous variant | G/A | snv | 0.56 | 0.52 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.080 | 20 | 44272615 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 20 | 44216629 | intron variant | T/C | snv | 7.5E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 20 | 44315384 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 20 | 44212989 | non coding transcript exon variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 20 | 44293488 | intergenic variant | C/T | snv | 7.3E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 20 | 44261379 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 20 | 44211350 | non coding transcript exon variant | T/C | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 20 | 44267266 | intron variant | C/A | snv | 7.3E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 20 | 44389620 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
1.000 | 0.080 | 19 | 19609979 | intron variant | T/G | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 19678719 | splice region variant | A/G | snv | 0.10 | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 19 | 33402102 | intron variant | A/G | snv | 0.45 |
|
0.820 | 0.667 | 1 | 2011 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 19499787 | intron variant | C/G;T | snv | 7.4E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
1.000 | 0.080 | 19 | 45655255 | downstream gene variant | T/G | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 |
|
0.840 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
1.000 | 0.080 | 18 | 60381959 | intron variant | A/C | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.925 | 0.120 | 18 | 63178651 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||||
|
1.000 | 0.080 | 18 | 47657525 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.080 | 18 | 7068463 | intron variant | C/A;G | snv |
|
0.810 | 1.000 | 1 | 2012 | 2012 |