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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.320 | 2 | 73451171 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.120 | 1 | 209706871 | intron variant | -/A | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.752 | 0.280 | 12 | 76347713 | frameshift variant | -/A | delins | 6.0E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 187670560 | upstream gene variant | -/AG | ins | 2.2E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2016 | 2019 | |||||
|
5 | 0.851 | 0.160 | 6 | 34242693 | intron variant | -/C | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 5 | 18186317 | intergenic variant | -/TAAAT | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.200 | 11 | 5227101 | 5 prime UTR variant | A/- | del | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.080 | 18 | 60371403 | missense variant | A/C | snv | 2.0E-05 | 1.4E-05 | 0.800 | 1.000 | 5 | 2003 | 2015 | |||
|
1 | 1.000 | 0.080 | 8 | 70348097 | intron variant | A/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.080 | 14 | 78319734 | intron variant | A/C | snv | 0.13 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 2 | 202390762 | intron variant | A/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 18 | 13825728 | splice region variant | A/C | snv | 0.17 | 0.19 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.080 | 1 | 162368607 | 3 prime UTR variant | A/C | snv | 0.76 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 15 | 51680150 | upstream gene variant | A/C | snv | 5.4E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.851 | 0.200 | 17 | 42552898 | 5 prime UTR variant | A/C | snv | 7.8E-03 | 8.2E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.925 | 0.080 | 11 | 27706992 | intron variant | A/C | snv | 0.83 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.925 | 0.200 | 6 | 31605179 | intergenic variant | A/C | snv | 0.34 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.280 | 1 | 9245386 | missense variant | A/C | snv | 0.12 | 0.10 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.851 | 0.200 | 14 | 64294403 | 5 prime UTR variant | A/C | snv | 7.0E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 17 | 80617311 | intron variant | A/C | snv | 0.43 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.200 | 5 | 68231498 | intron variant | A/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
15 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 0.040 | 1.000 | 4 | 2008 | 2019 |