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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.900 | 0.873 | 63 | 2008 | 2019 | |||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.900 | 1.000 | 28 | 2010 | 2019 | ||||
|
14 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 0.900 | 0.893 | 28 | 2011 | 2019 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.684 | 19 | 2005 | 2020 | |||||
|
4 | 0.882 | 0.160 | 11 | 124736389 | upstream gene variant | T/C | snv | 0.20 | 0.900 | 0.875 | 16 | 2009 | 2019 | ||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.100 | 0.727 | 11 | 2004 | 2018 | ||||
|
4 | 0.925 | 0.040 | 11 | 113522272 | regulatory region variant | C/T | snv | 0.26 | 0.740 | 1.000 | 11 | 2014 | 2019 | ||||
|
3 | 1.000 | 0.040 | 7 | 86798310 | intron variant | G/A | snv | 8.9E-02 | 0.720 | 0.900 | 10 | 2014 | 2019 | ||||
|
13 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 0.100 | 0.900 | 10 | 2008 | 2019 | |||||
|
3 | 0.925 | 0.040 | 18 | 55487771 | intron variant | A/C;G | snv | 0.880 | 1.000 | 10 | 2009 | 2018 | |||||
|
5 | 0.851 | 0.040 | 8 | 4323322 | intron variant | C/A | snv | 0.18 | 0.850 | 0.889 | 9 | 2011 | 2017 | ||||
|
11 | 0.763 | 0.240 | 22 | 19942598 | intron variant | A/G | snv | 0.23 | 0.090 | 0.889 | 9 | 2004 | 2017 | ||||
|
3 | 1.000 | 0.040 | 22 | 41191552 | intron variant | T/A | snv | 0.23 | 0.710 | 1.000 | 9 | 2014 | 2019 | ||||
|
3 | 0.882 | 0.120 | 22 | 20140031 | non coding transcript exon variant | A/G | snv | 0.44 | 0.080 | 0.750 | 8 | 2004 | 2010 | ||||
|
4 | 1.000 | 0.040 | 8 | 142231572 | intron variant | A/C | snv | 0.68 | 0.810 | 1.000 | 8 | 2013 | 2019 | ||||
|
3 | 1.000 | 0.040 | 11 | 124744061 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 8 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 231966518 | intron variant | G/A | snv | 0.49 | 0.080 | 0.875 | 8 | 2005 | 2018 | ||||
|
3 | 1.000 | 0.040 | 5 | 154301187 | intron variant | A/T | snv | 0.37 | 0.700 | 1.000 | 7 | 2014 | 2019 | ||||
|
6 | 0.827 | 0.160 | 5 | 161329618 | 3 prime UTR variant | A/G | snv | 0.34 | 0.070 | 0.857 | 7 | 2004 | 2019 | ||||
|
6 | 0.882 | 0.040 | 12 | 2235794 | intron variant | A/G | snv | 0.50 | 0.710 | 1.000 | 7 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.040 | 19 | 30496516 | intron variant | A/G | snv | 0.19 | 0.710 | 1.000 | 7 | 2014 | 2019 | ||||
|
2 | 1.000 | 0.040 | 7 | 137390098 | 3 prime UTR variant | T/C | snv | 0.29 | 0.700 | 1.000 | 7 | 2014 | 2019 | ||||
|
3 | 1.000 | 0.040 | 15 | 90883330 | 3 prime UTR variant | G/A;C | snv | 0.720 | 1.000 | 7 | 2014 | 2019 | |||||
|
6 | 0.851 | 0.240 | 7 | 103764368 | intron variant | G/A | snv | 0.17 | 0.860 | 0.857 | 7 | 2008 | 2019 | ||||
|
3 | 0.925 | 0.040 | 16 | 13656002 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 7 | 2014 | 2019 |