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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 5 | 10133592 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 14 | 106125683 | upstream gene variant | G/C | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 14 | 106587377 | upstream gene variant | C/T | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 13 | 106686453 | intron variant | C/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 1 | 108875057 | intron variant | C/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.925 | 5 | 109205522 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
5 | 0.925 | 2 | 109433263 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 1.000 | 12 | 111266635 | intron variant | G/A | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.925 | 3 | 115559835 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
5 | 1.000 | 5 | 117580137 | intergenic variant | G/A | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.925 | 11 | 119032329 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
6 | 1.000 | 7 | 1249003 | regulatory region variant | G/T | snv | 0.72 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.925 | 7 | 125820594 | intergenic variant | G/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 7 | 126684537 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 1.000 | 11 | 129980320 | intron variant | G/A | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 11 | 130190674 | missense variant | G/A | snv | 2.2E-02 | 8.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.882 | 0.080 | 6 | 131504454 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 1.000 | 11 | 131630365 | intron variant | C/A | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.925 | 16 | 13267554 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 1.000 | 21 | 13297803 | intergenic variant | A/G | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 1.000 | X | 133003128 | intergenic variant | T/C | snv | 3.2E-03 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 1.000 | 9 | 133934793 | intron variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 17 | 13627527 | intergenic variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 2 | 136609937 | intergenic variant | G/A | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.925 | 3 | 1383484 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |