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 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.900 | 1.000 | 11 | 2008 | 2016 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.900 | 1.000 | 11 | 2010 | 2020 | |||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.850 | 1.000 | 9 | 2007 | 2018 | |||||
|
26 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 0.840 | 1.000 | 10 | 2011 | 2018 | |||||
|
11 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 0.840 | 1.000 | 7 | 2007 | 2013 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
8 | 0.776 | 0.120 | 10 | 44280376 | downstream gene variant | C/T | snv | 0.25 | 0.820 | 1.000 | 4 | 2011 | 2017 | ||||
|
8 | 0.827 | 0.280 | 12 | 120997784 | synonymous variant | G/A;T | snv | 6.7E-06; 0.40 | 0.820 | 1.000 | 4 | 2009 | 2011 | ||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.820 | 1.000 | 4 | 2011 | 2018 | ||||
|
16 | 0.732 | 0.160 | 6 | 160540105 | missense variant | T/C | snv | 5.6E-02 | 3.1E-02 | 0.820 | 1.000 | 4 | 2011 | 2013 | |||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.820 | 1.000 | 4 | 2009 | 2016 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.820 | 1.000 | 4 | 2011 | 2016 |