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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 1.000 | 0.040 | 8 | 125487789 | intron variant | C/G | snv | 0.37 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
5 | 6 | 41937537 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2010 | 2012 | |||||||
|
3 | 7 | 135661514 | upstream gene variant | T/G | snv | 0.42 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 14 | 95536861 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 6 | 37175357 | 3 prime UTR variant | A/G | snv | 6.5E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
9 | 12 | 54292096 | intron variant | C/T | snv | 5.0E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 5 | 154655677 | intergenic variant | C/T | snv | 7.4E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 16 | 30091839 | 5 prime UTR variant | C/A | snv | 0.41 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 11 | 95153468 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
1 | 12 | 53366378 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
6 | 6 | 139519556 | intron variant | A/C | snv | 0.50 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
5 | 20 | 57416581 | regulatory region variant | A/G | snv | 0.58 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 1 | 205232197 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
2 | 19 | 16131076 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 2 | 111410354 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
2 | 15 | 65759007 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2010 | 2012 | |||||||
|
2 | 20 | 50470475 | intergenic variant | G/A | snv | 0.47 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 6 | 135131014 | intergenic variant | G/A;C;T | snv | 0.800 | 1.000 | 2 | 2010 | 2012 | |||||||
|
2 | 16 | 87852884 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
2 | 4 | 144114635 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 1.000 | 0.040 | 10 | 46002468 | intron variant | C/T | snv | 9.5E-02 | 0.700 | 1.000 | 2 | 2010 | 2017 | ||||
|
4 | 14 | 65035521 | intron variant | G/A | snv | 0.61 | 0.700 | 1.000 | 2 | 2012 | 2017 | ||||||
|
3 | 18 | 46276334 | intergenic variant | G/A | snv | 0.42 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
7 | 1.000 | 0.080 | 16 | 134391 | intron variant | T/G | snv | 2.0E-02 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||
|
2 | 17 | 30935755 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 2 | 2016 | 2019 |