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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.160 | 2 | 211380365 | 3 prime UTR variant | -/AAAATAGGATTG | delins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 1 | 7498191 | intron variant | -/AGTGTG;AGTGTGTG;AGTGTTGGTG;AGTGTTGGTGTG;AGTGTTGGTGTGTG;GGTG | delins | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.060 | 0.667 | 6 | 2007 | 2016 | |||||
|
15 | 0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 6 | 160160511 | downstream gene variant | -/G | delins | 0.31 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.160 | 9 | 104094409 | 5 prime UTR variant | -/GC | ins | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 7 | 15370686 | intron variant | -/TTTGAGAGGTGCCT | delins | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
1 | 1.000 | 0.080 | 9 | 80614113 | intergenic variant | A/-;AA | delins | 2.9E-02 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 12 | 89766754 | intron variant | A/-;AA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.080 | 8 | 127094635 | intron variant | A/C | snv | 0.17 | 0.780 | 1.000 | 10 | 2008 | 2017 | ||||
|
10 | 0.790 | 0.080 | 1 | 182582202 | missense variant | A/C | snv | 0.54 | 0.49 | 0.080 | 0.875 | 8 | 2004 | 2019 | |||
|
4 | 0.882 | 0.080 | 4 | 68670366 | missense variant | A/C | snv | 0.51 | 0.53 | 0.070 | 0.857 | 7 | 2000 | 2017 | |||
|
2 | 0.925 | 0.080 | 10 | 46027444 | missense variant | A/C | snv | 0.44 | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.080 | 1 | 202939708 | downstream gene variant | A/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.790 | 0.160 | 2 | 38075270 | missense variant | A/C | snv | 4.3E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.240 | 4 | 94593458 | intron variant | A/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 8 | 755922 | intron variant | A/C | snv | 5.9E-03 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.080 | 2 | 192772562 | intron variant | A/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 7 | 40835593 | intron variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 22 | 28695159 | missense variant | A/C | snv | 1.4E-03 | 5.4E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
23 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.080 | 6 | 31164872 | splice region variant | A/C | snv | 0.64 | 0.69 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.851 | 0.120 | 8 | 16066997 | intergenic variant | A/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 20 | 63694757 | missense variant | A/C | snv | 0.75 | 0.81 | 0.010 | 1.000 | 1 | 2019 | 2019 |