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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 1.000 | 0.080 | 12 | 56002720 | missense variant | G/T | snv | 1.0E-03 | 5.6E-04 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.040 | 1 | 65941669 | intron variant | G/A | snv | 0.42 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 11 | 124568716 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 12 | 127745489 | regulatory region variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 25211195 | intergenic variant | C/T | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 40732105 | 3 prime UTR variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 17967858 | intergenic variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 81336231 | intron variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 86631513 | intron variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 7448683 | intron variant | C/T | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 84175168 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 16 | 73114768 | intron variant | G/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 170014094 | intron variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 204105737 | intron variant | C/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 42441919 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 3636370 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 4 | 134774652 | intron variant | C/T | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 232784580 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 13752941 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.120 | 8 | 11722293 | intron variant | A/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 5 | 11320426 | intron variant | G/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
14 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.925 | 0.080 | 1 | 192794818 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 |