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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.040 | 1 | 208936211 | intergenic variant | T/C | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 11 | 2301859 | start lost | C/T | snv | 1.0E-02 | 9.6E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.040 | 18 | 23164290 | intron variant | C/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 2 | 234306004 | regulatory region variant | G/A | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 1 | 243445665 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.040 | 9 | 26133810 | intergenic variant | C/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.040 | 1.000 | 4 | 2009 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.040 | 1.000 | 4 | 2009 | 2019 | ||||
|
5 | 0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.040 | 21 | 28959613 | missense variant | G/A | snv | 5.7E-02 | 2.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.040 | 5 | 29091578 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 12 | 30661250 | missense variant | T/C | snv | 3.0E-04 | 9.1E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.040 | 20 | 37181711 | intron variant | G/A | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 2 | 39936810 | intron variant | AT/-;ATAT | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.040 | 8 | 4380617 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 22 | 43863901 | upstream gene variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.040 | 2 | 46505266 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
23 | 0.677 | 0.360 | 13 | 46834899 | missense variant | G/A | snv | 7.9E-02 | 9.5E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.020 | 1.000 | 2 | 2004 | 2010 | |||
|
7 | 0.851 | 0.080 | 3 | 52781889 | intron variant | T/C | snv | 0.49 | 0.54 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.040 | 12 | 53187599 | 3 prime UTR variant | G/T | snv | 1.2E-02 | 1.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.040 | 14 | 54903622 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.040 | 13 | 55819766 | intergenic variant | A/G | snv | 0.52 | 0.700 | 1.000 | 1 | 2017 | 2017 |