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 | 0.040 | 5 | 35033500 | missense variant | G/A | snv | 0.95 | 0.94 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.040 | 11 | 89340157 | frameshift variant | G/- | delins | 0.020 | 1.000 | 2 | 2016 | 2017 | |||||
|
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 | |||
|
2 | 0.925 | 0.040 | 4 | 11406961 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||
|
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 | |||||
|
2 | 0.925 | 0.040 | 11 | 94449826 | intron variant | G/T | snv | 0.41 | 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 | ||||
|
2 | 0.925 | 0.040 | 1 | 161041409 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
2 | 0.925 | 0.040 | 17 | 58279033 | missense variant | T/C | snv | 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.040 | 8 | 19960927 | missense variant | A/C;G | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 1 | 11789412 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
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 | |||
|
3 | 0.882 | 0.120 | 17 | 7631317 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.080 | 1 | 150579475 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.080 | 3 | 186854295 | missense variant | A/G | snv | 6.4E-05 | 2.1E-05 | 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 | |||
|
3 | 0.882 | 0.160 | 9 | 104822520 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 1 | 172377256 | intron variant | T/A | snv | 0.70 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 2 | 113132839 | missense variant | G/C | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.882 | 0.080 | 8 | 104248720 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 |