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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.790 | 0.080 | 5 | 96794169 | intron variant | -/C | delins | 2.1E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.776 | 0.080 | 13 | 33518027 | intron variant | -/TAA | delins | 6.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.080 | 7 | 140753338 | inframe insertion | -/TAG | delins | 4.0E-06 | 0.700 | 1.000 | 6 | 2009 | 2012 | ||||
|
4 | 1.000 | 0.080 | 10 | 87958013 | frameshift variant | A/- | delins | 0.700 | 1.000 | 10 | 2004 | 2012 | |||||
|
18 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 0.700 | 1.000 | 6 | 2008 | 2019 | ||||
|
9 | 0.790 | 0.080 | 1 | 183112059 | intron variant | A/C | snv | 0.37 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||
|
8 | 0.807 | 0.200 | 3 | 179221147 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.776 | 0.160 | 3 | 179203763 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
9 | 0.790 | 0.080 | 15 | 81937658 | intron variant | A/C | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.790 | 0.080 | 1 | 239918447 | upstream gene variant | A/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 3 | 12433975 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
12 | 0.776 | 0.080 | 20 | 34625392 | intron variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 2 | 45181130 | intron variant | A/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.827 | 0.080 | 9 | 6365683 | intergenic variant | A/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.790 | 0.080 | 17 | 913501 | intron variant | A/C | snv | 9.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 16 | 68710036 | intron variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.120 | 18 | 51065456 | missense variant | A/C;G | snv | 0.700 | 1.000 | 7 | 1996 | 2007 | |||||
|
20 | 0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.790 | 0.080 | 16 | 78042662 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
10 | 0.776 | 0.080 | 14 | 34894698 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.790 | 0.970 | 33 | 2002 | 2019 | ||||
|
33 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 12 | 2004 | 2016 | |||||
|
16 | 0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 11 | 2004 | 2016 |