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 | 0.944 | 36 | 2007 | 2019 | ||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.100 | 0.958 | 24 | 2008 | 2019 | ||||
|
26 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 0.890 | 1.000 | 12 | 2007 | 2019 | |||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.100 | 1.000 | 11 | 2009 | 2019 | ||||
|
19 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 0.760 | 1.000 | 11 | 2015 | 2019 | ||||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.100 | 1.000 | 10 | 2008 | 2019 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.090 | 1.000 | 9 | 2012 | 2019 | |||||
|
17 | 0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 | 0.090 | 1.000 | 9 | 2008 | 2019 | ||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.770 | 0.875 | 8 | 2012 | 2019 | ||||
|
11 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 0.750 | 1.000 | 6 | 2011 | 2019 | ||||
|
5 | 0.851 | 0.160 | 9 | 22098620 | intron variant | A/G | snv | 0.40 | 0.820 | 1.000 | 6 | 2007 | 2018 | ||||
|
24 | 0.708 | 0.440 | 16 | 56962376 | intron variant | G/A | snv | 0.42 | 0.38 | 0.060 | 0.833 | 6 | 2013 | 2018 | |||
|
15 | 0.732 | 0.280 | 9 | 22083405 | intron variant | C/G;T | snv | 0.050 | 1.000 | 5 | 2011 | 2019 | |||||
|
3 | 0.925 | 0.080 | 21 | 34221526 | intron variant | G/A | snv | 9.2E-02 | 0.700 | 1.000 | 5 | 2015 | 2018 | ||||
|
10 | 0.763 | 0.160 | 6 | 11774350 | intron variant | A/G | snv | 0.65 | 0.050 | 1.000 | 5 | 2011 | 2015 | ||||
|
5 | 0.827 | 0.160 | 6 | 12927312 | intron variant | C/G | snv | 0.27 | 0.730 | 1.000 | 4 | 2013 | 2019 | ||||
|
7 | 0.882 | 0.120 | 15 | 90873320 | intron variant | C/A;G | snv | 0.810 | 1.000 | 4 | 2013 | 2018 | |||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.040 | 1.000 | 4 | 2014 | 2019 | ||||
|
12 | 0.925 | 0.080 | 7 | 150993088 | intron variant | C/T | snv | 5.7E-02 | 0.700 | 1.000 | 4 | 2015 | 2018 | ||||
|
3 | 1.000 | 0.040 | 16 | 83012185 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 4 | 2017 | 2018 | ||||
|
6 | 0.807 | 0.080 | 11 | 103789839 | intron variant | T/A;C | snv | 0.820 | 1.000 | 4 | 2012 | 2018 | |||||
|
2 | 1.000 | 0.040 | 11 | 9729649 | intron variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2015 | 2018 | |||||
|
2 | 0.925 | 0.080 | 6 | 39207146 | intron variant | T/C | snv | 0.18 | 0.810 | 1.000 | 3 | 2013 | 2018 | ||||
|
5 | 0.851 | 0.040 | 12 | 124822507 | intron variant | G/A | snv | 0.15 | 0.710 | 1.000 | 3 | 2017 | 2019 | ||||
|
16 | 0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 | 0.720 | 1.000 | 3 | 2014 | 2016 |