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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 18 | 22610832 | intergenic variant | G/A | snv | 0.86 | 0.880 | 0.778 | 9 | 2010 | 2016 | ||||
|
1 | 1.000 | 0.040 | 11 | 32342641 | intron variant | G/A | snv | 0.18 | 0.830 | 0.800 | 5 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 5113465 | intergenic variant | C/T | snv | 0.20 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 103256336 | intron variant | T/C | snv | 6.8E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | X | 48047088 | intron variant | C/T | snv | 2.1E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 14 | 70035333 | downstream gene variant | G/A;C | snv | 2.1E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 228515588 | upstream gene variant | A/G | snv | 0.81 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 3 | 26501929 | intergenic variant | C/T | snv | 0.12 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 22 | 37148446 | intron variant | G/A | snv | 0.21 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 21 | 41923401 | intron variant | G/C | snv | 7.5E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 242711583 | intergenic variant | T/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 6 | 147379997 | intron variant | T/G | snv | 0.62 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 4 | 77684215 | intergenic variant | A/G | snv | 0.56 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 8 | 130284521 | intron variant | A/C | snv | 0.29 | 0.740 | 1.000 | 4 | 2015 | 2019 | ||||
|
9 | 0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 | 0.710 | 1.000 | 2 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 11982698 | intron variant | G/A | snv | 0.43 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 3 | 141681811 | intron variant | G/A | snv | 4.4E-02 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 10 | 21003994 | intron variant | C/T | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 11 | 32342070 | intron variant | C/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | 11 | 32343884 | upstream gene variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 5 | 25323598 | intron variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 14 | 76517387 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 4 | 3428129 | missense variant | A/G | snv | 4.0E-02 | 2.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 18 | 45471734 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32518625 | missense variant | C/T | snv | 0.12 | 4.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 |