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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 18 | 13826391 | frameshift variant | -/G | ins | 2.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
18 | 0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.851 | 0.080 | 12 | 49086185 | upstream gene variant | A/C | snv | 0.50 | 0.710 | 1.000 | 3 | 2011 | 2014 | ||||
|
3 | 0.882 | 0.080 | 13 | 105475787 | intron variant | A/C | snv | 0.32 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
4 | 0.925 | 0.040 | 12 | 48995537 | 3 prime UTR variant | A/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.040 | 18 | 55399097 | intron variant | A/C | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 7 | 103105631 | intron variant | A/C | snv | 6.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 11 | 79394755 | intron variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.040 | 12 | 130827204 | missense variant | A/C | snv | 1.4E-02 | 1.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.040 | 8 | 32840440 | intron variant | A/C | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 7502943 | intron variant | A/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 2 | 149675023 | intron variant | A/C | snv | 4.2E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 4 | 55462689 | intron variant | A/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.040 | 2 | 184947213 | intergenic variant | A/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 111661054 | 3 prime UTR variant | A/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 1 | 7801624 | intron variant | A/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 12 | 17370820 | regulatory region variant | A/C | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
16 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.040 | 16 | 23622705 | intron variant | A/C;G | snv | 0.810 | 1.000 | 3 | 2007 | 2011 | |||||
|
1 | 1.000 | 0.040 | 10 | 18365098 | intron variant | A/C;G | snv | 0.11 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
5 | 0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
5 | 0.851 | 0.040 | 16 | 89675088 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 12 | 48824388 | intron variant | A/C;G | snv | 4.7E-06; 0.58 | 0.800 | 1.000 | 1 | 2011 | 2011 |