| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.677 | 0.480 | 11 | 117993348 | missense variant | A/G | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.080 | 2 | 98544046 | intron variant | ACACAC/-;AC;ACAC;ACACACAC;ACACACACAC;ACACACACACAC | delins | 0.25 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 5 | 179793009 | upstream gene variant | G/A | snv | 8.4E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 1 | 111289583 | upstream gene variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.807 | 0.160 | 17 | 39924612 | intron variant | A/G;T | snv | 0.56 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 13 | 48707418 | missense variant | A/G | snv | 1.7E-02 | 1.7E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
8 | 0.776 | 0.280 | 19 | 3595796 | missense variant | A/G | snv | 0.56 | 0.66 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
3 | 0.882 | 0.080 | 12 | 57095865 | 3 prime UTR variant | C/T | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.790 | 0.160 | 17 | 39933091 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
33 | 0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.120 | 5 | 159320326 | missense variant | C/T | snv | 2.2E-03 | 7.3E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
8 | 0.790 | 0.200 | 11 | 60095631 | missense variant | A/G | snv | 4.7E-02 | 7.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.160 | 5 | 132634182 | intron variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.827 | 0.120 | 7 | 106018005 | missense variant | G/A | snv | 0.19 | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.080 | 12 | 57111290 | 5 prime UTR variant | ACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACAC;ACACACACACACACACACACACACAC | delins | 0.32 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 17 | 39922412 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
12 | 0.742 | 0.320 | 11 | 76590272 | upstream gene variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 9 | 21440695 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
7 | 0.807 | 0.120 | 9 | 6213387 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
17 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 0.010 | 1.000 | 1 | 2001 | 2001 |