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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.900 | 1.000 | 28 | 2007 | 2020 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.895 | 19 | 2001 | 2018 | |||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.800 | 1.000 | 13 | 2008 | 2016 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.900 | 1.000 | 11 | 2008 | 2016 | ||||
|
26 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 0.840 | 1.000 | 10 | 2011 | 2018 | |||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.090 | 0.778 | 9 | 2005 | 2013 | |||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.850 | 1.000 | 9 | 2007 | 2018 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.070 | 1.000 | 7 | 2012 | 2018 | |||||
|
10 | 0.763 | 0.240 | 10 | 44258419 | downstream gene variant | T/C | snv | 0.24 | 0.840 | 1.000 | 7 | 2007 | 2012 | ||||
|
25 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 0.830 | 1.000 | 7 | 2011 | 2016 | ||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.830 | 1.000 | 7 | 2011 | 2018 | ||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.830 | 1.000 | 6 | 2011 | 2018 | ||||
|
19 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 0.820 | 1.000 | 6 | 2011 | 2019 | ||||
|
16 | 0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 | 0.820 | 1.000 | 5 | 2011 | 2016 | ||||
|
7 | 0.827 | 0.120 | 9 | 22103814 | intron variant | A/G | snv | 0.63 | 0.820 | 1.000 | 5 | 2011 | 2016 | ||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.830 | 1.000 | 5 | 2011 | 2019 | ||||
|
15 | 0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv | 0.830 | 1.000 | 5 | 2007 | 2012 | |||||
|
7 | 0.807 | 0.200 | 6 | 150931849 | intron variant | G/A | snv | 0.35 | 0.830 | 1.000 | 5 | 2007 | 2014 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.050 | 1.000 | 5 | 2016 | 2018 | |||||
|
11 | 0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 | 0.040 | 0.750 | 4 | 2013 | 2018 | ||||
|
16 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 0.820 | 1.000 | 4 | 2011 | 2013 | |||||
|
19 | 0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv | 0.820 | 1.000 | 4 | 2011 | 2017 | |||||
|
5 | 0.827 | 0.160 | 6 | 12927312 | intron variant | C/G | snv | 0.27 | 0.820 | 1.000 | 4 | 2011 | 2017 | ||||
|
16 | 0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 | 0.730 | 0.750 | 4 | 2009 | 2019 | ||||
|
8 | 0.776 | 0.120 | 10 | 44280376 | downstream gene variant | C/T | snv | 0.25 | 0.820 | 1.000 | 4 | 2011 | 2017 |