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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.100 | 0.944 | 18 | 2006 | 2019 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.060 | 1.000 | 6 | 2008 | 2019 | |||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.020 | 1.000 | 2 | 2014 | 2016 | |||
|
8 | 0.851 | 0.200 | 6 | 154091047 | missense variant | G/A | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2008 | 2018 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 14 | 54334127 | intergenic variant | A/G | snv | 7.2E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 154039569 | missense variant | A/G | snv | 4.1E-06 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.120 | 22 | 42128944 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.120 | 3 | 88809891 | intergenic variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 22 | 42128215 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.851 | 0.200 | 12 | 121155216 | intron variant | C/T | snv | 0.15 | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | 6 | 154091110 | missense variant | T/C | snv | 1.8E-04 | 7.8E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.200 | 1 | 28863085 | synonymous variant | C/T | snv | 0.59 | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.200 | 21 | 37645860 | intron variant | T/C | snv | 0.16 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
5 | 0.925 | 0.160 | 22 | 19962794 | missense variant | A/G | snv | 8.4E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.120 | 14 | 54893421 | intron variant | T/A;C | snv | 0.25 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
25 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.160 | 1 | 28814643 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.120 | 7 | 156182007 | downstream gene variant | A/G;T | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
16 | 0.752 | 0.320 | 4 | 69098620 | missense variant | T/C | snv | 0.56 | 0.57 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.120 | 4 | 69096638 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.120 | 22 | 42129185 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.827 | 0.240 | 4 | 69112695 | missense variant | T/C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.882 | 0.200 | 14 | 54912273 | intergenic variant | C/T | snv | 0.31 | 0.010 | < 0.001 | 1 | 2011 | 2011 |