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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 2 | 40145564 | intron variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 15 | 32733778 | 3 prime UTR variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 12 | 10986253 | missense variant | C/T | snv | 0.40 | 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.120 | 7 | 141972905 | missense variant | G/A | snv | 0.50 | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 1.000 | 0.080 | 5 | 112801324 | missense variant | C/A;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.160 | 5 | 33989413 | missense variant | C/T | snv | 0.70 | 0.74 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.851 | 0.160 | 5 | 33998778 | missense variant | A/C;G | snv | 1.6E-05; 0.70 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.851 | 0.120 | 3 | 9765892 | splice acceptor variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
5 | 0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
6 | 0.851 | 0.240 | 7 | 141972804 | missense variant | T/C | snv | 0.49 | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.925 | 0.080 | 8 | 127397266 | intron variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.807 | 0.120 | 5 | 112827177 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
6 | 0.851 | 0.200 | 16 | 53805223 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.851 | 0.160 | 7 | 141973545 | missense variant | C/G | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.827 | 0.080 | 9 | 6365683 | intergenic variant | A/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.776 | 0.280 | 17 | 6999441 | missense variant | A/G | snv | 0.60 | 0.62 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
9 | 0.807 | 0.120 | 2 | 182838608 | missense variant | G/A | snv | 8.2E-02 | 8.3E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
9 | 0.790 | 0.160 | 9 | 21816529 | intron variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.763 | 0.240 | 20 | 54156202 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
10 | 0.776 | 0.080 | 3 | 133982275 | intron variant | G/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 17 | 10803924 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.776 | 0.080 | 12 | 6297738 | regulatory region variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 9 | 110909123 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 20 | 7760329 | intergenic variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 10 | 99591947 | intergenic variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 |