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 | 0.925 | 0.040 | 11 | 89340157 | frameshift variant | G/- | delins | 0.020 | 1.000 | 2 | 2016 | 2017 | |||||
|
3 | 0.882 | 0.040 | 1 | 163143470 | 3 prime UTR variant | G/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 9 | 115035318 | synonymous variant | T/C | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.851 | 0.040 | 1 | 201376359 | intron variant | G/A | snv | 0.27 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 11 | 94432160 | intron variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 3 | 186853221 | missense variant | C/T | snv | 1.8E-04 | 5.6E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.827 | 0.040 | 11 | 116836193 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.040 | 1 | 21259168 | intron variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.040 | 6 | 32183517 | intron variant | T/C | snv | 1.7E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.827 | 0.040 | 11 | 130880747 | missense variant | A/C;T | snv | 0.77; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.040 | 1 | 201903136 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 2 | 226235982 | intergenic variant | G/T | snv | 0.72 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.040 | 12 | 10160535 | non coding transcript exon variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.040 | 3 | 108428881 | missense variant | T/A;C | snv | 4.3E-06; 0.24 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.040 | 9 | 99052344 | intron variant | C/A;G;T | snv | 1.1E-04; 0.75; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 8 | 139234730 | regulatory region variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.040 | 1 | 154443301 | intron variant | A/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.040 | 1 | 172377256 | intron variant | T/A | snv | 0.70 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 13 | 33018055 | intron variant | C/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.040 | 19 | 46623592 | missense variant | G/A;C | snv | 7.1E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 11 | 94449826 | intron variant | G/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 13 | 33017932 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 13 | 33043649 | intron variant | C/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 6 | 41134089 | intron variant | G/T | snv | 9.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 15 | 33616418 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 |