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 | 5 | 6937069 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 14 | 51616362 | intron variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 0.925 | 0.080 | 19 | 44903416 | 3 prime UTR variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 7 | 4865424 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 7 | 111887504 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1 | 207615233 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 8 | 11919395 | downstream gene variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 159740595 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 1 | 159741019 | intergenic variant | G/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 6 | 88403098 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1 | 1 | 159226975 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2007 | 2012 | |||||||
|
1 | 1 | 159679910 | intergenic variant | C/T | snv | 5.3E-02 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||||
|
4 | 17 | 74703694 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
7 | 0.807 | 0.120 | 10 | 89247603 | missense variant | T/G | snv | 0.32 | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 1.000 | 0.040 | 15 | 54388434 | intron variant | A/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 16 | 51124799 | intergenic variant | C/T | snv | 3.2E-02 | 0.800 | 1.000 | 2 | 2011 | 2018 | ||||||
|
2 | 12 | 111658411 | intron variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 103089316 | intron variant | A/G | snv | 0.60 | 0.800 | 1.000 | 2 | 2011 | 2019 | ||||||
|
1 | 11 | 81025386 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
6 | 10 | 63267850 | intron variant | A/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 120967407 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
1 | 12 | 121038620 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 103101373 | intron variant | T/C | snv | 0.57 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 12 | 103143488 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |