| 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 | 11 | 5667710 | missense variant | C/T | snv | 0.14 | 0.14 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
8 | 0.925 | 3 | 46410189 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 19 | 17401603 | upstream gene variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.882 | 8 | 64727703 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 11 | 94500021 | downstream gene variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.925 | 11 | 119032329 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 11 | 108048172 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.925 | 11 | 62293877 | downstream gene variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 16 | 13267554 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 19 | 8066356 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 20 | 36896959 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||
|
5 | 0.925 | 3 | 158893105 | intergenic variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 22 | 39100318 | inframe deletion | CAA/- | delins | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1.000 | 22 | 39101399 | missense variant | G/A;C;T | snv | 4.0E-06; 0.47 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 12 | 123586856 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
1 | 1.000 | 11 | 5679850 | missense variant | C/A;T | snv | 8.0E-06; 9.5E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 3 | 46373902 | stop gained | C/A;G;T | snv | 1.6E-05; 8.2E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 3 | 115559835 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
5 | 0.925 | 11 | 17094129 | intron variant | T/C | snv | 6.2E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 3 | 1383484 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.925 | 7 | 25568789 | TF binding site variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 0.925 | 2 | 8037334 | intron variant | G/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 7 | 126684537 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 12 | 47842624 | 3 prime UTR variant | TTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT | delins | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 1.000 | 3 | 46373218 | missense variant | G/A | snv | 5.2E-04 | 1.5E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 |