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 | 5 | 147824702 | missense variant | G/A | snv | 3.2E-05 | 1.4E-05 | 0.020 | 1.000 | 2 | 2001 | 2003 | |||
|
1 | 1.000 | 0.040 | 7 | 142765617 | intron variant | G/A | snv | 0.51 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 142773300 | missense variant | G/A | snv | 1.4E-05 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.040 | 7 | 142751775 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.040 | 5 | 35670201 | missense variant | G/A;T | snv | 0.10; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | X | 106250703 | intergenic variant | G/A | snv | 0.17 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | X | 106919404 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 20 | 51837908 | intron variant | C/T | snv | 2.7E-02 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 32713272 | upstream gene variant | A/C | snv | 0.29 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
2 | 0.925 | 0.040 | 7 | 142750579 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2000 | 2006 | |||||
|
2 | 0.925 | 0.040 | 7 | 142751808 | splice donor variant | G/A | snv | 3.6E-05 | 9.8E-05 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
2 | 1.000 | 0.040 | 19 | 44909005 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 1 | 15445703 | missense variant | C/T | snv | 9.9E-05 | 2.2E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 16 | 84838647 | missense variant | T/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 7 | 142751934 | missense variant | G/A;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.160 | 7 | 130269008 | stop gained | C/T | snv | 8.8E-05 | 1.3E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.040 | 10 | 30230903 | regulatory region variant | C/T | snv | 0.64 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | X | 106897095 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 3 | 2035283 | intergenic variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 116790427 | missense variant | C/T | snv | 1.4E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 9 | 95555669 | intergenic variant | A/T | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.160 | X | 38403681 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.040 | 7 | 142773430 | missense variant | GC/AT | mnv | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.040 | 7 | 142773430 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.040 | 7 | 142750582 | missense variant | A/G | snv | 0.040 | 1.000 | 4 | 2000 | 2020 |