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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.900 | 0.889 | 6 | 2009 | 2020 | ||||
|
3 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 0.900 | 0.952 | 6 | 2009 | 2020 | |||||
|
2 | 0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv | 0.900 | 0.941 | 3 | 2009 | 2020 | |||||
|
2 | 0.763 | 0.200 | 8 | 129673211 | intron variant | T/G | snv | 0.17 | 0.900 | 1.000 | 2 | 2009 | 2020 | ||||
|
5 | 0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 | 0.900 | 0.875 | 2 | 2009 | 2020 | ||||
|
2 | 0.882 | 0.040 | 7 | 54911231 | intergenic variant | C/T | snv | 0.27 | 0.860 | 0.833 | 1 | 2011 | 2017 | ||||
|
4 | 0.882 | 0.040 | 7 | 55091656 | intron variant | A/G;T | snv | 0.20 | 0.850 | 1.000 | 2 | 2011 | 2018 | ||||
|
4 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.840 | 1.000 | 1 | 2009 | 2017 | |||||
|
3 | 0.708 | 0.360 | 9 | 22033367 | non coding transcript exon variant | C/T | snv | 0.71 | 0.820 | 1.000 | 2 | 2009 | 2019 | ||||
|
4 | 0.763 | 0.080 | 20 | 63680946 | intron variant | T/C | snv | 0.81 | 0.820 | 1.000 | 2 | 2009 | 2018 | ||||
|
2 | 0.882 | 0.040 | 3 | 169862183 | intron variant | G/A | snv | 0.25 | 0.820 | 1.000 | 1 | 2014 | 2015 | ||||
|
3 | 0.742 | 0.400 | 9 | 22043927 | intron variant | A/G | snv | 0.28 | 0.810 | 1.000 | 1 | 2009 | 2016 | ||||
|
2 | 0.851 | 0.120 | 8 | 129479506 | intron variant | T/G | snv | 0.17 | 0.810 | 1.000 | 1 | 2009 | 2019 | ||||
|
2 | 0.807 | 0.200 | 20 | 63686867 | non coding transcript exon variant | T/C | snv | 8.8E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.732 | 0.080 | 8 | 129633446 | intron variant | A/G | snv | 3.9E-02 | 0.760 | 1.000 | 3 | 2013 | 2019 | ||||
|
15 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 0.720 | 1.000 | 2 | 2012 | 2018 | ||||
|
4 | 0.851 | 0.080 | 9 | 22032153 | intron variant | T/G | snv | 0.28 | 0.710 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 27269953 | intron variant | C/T | snv | 7.1E-02 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 3 | 66452557 | intron variant | A/C;G | snv | 0.710 | 1.000 | 1 | 2017 | 2018 | |||||
|
2 | 0.882 | 0.040 | 15 | 76286421 | missense variant | G/A | snv | 7.4E-02 | 6.4E-02 | 0.710 | 1.000 | 1 | 2015 | 2017 | |||
|
1 | 1.000 | 0.040 | 15 | 55254859 | intron variant | A/C | snv | 0.66 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 118609400 | intron variant | G/C;T | snv | 0.700 | 1.000 | 3 | 2015 | 2018 | |||||
|
4 | 0.882 | 0.040 | 7 | 54848587 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2015 | 2018 | |||||
|
4 | 0.882 | 0.040 | 1 | 64763616 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 2 | 2017 | 2018 |