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 | 39393631 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 0.080 | 8 | 23893638 | regulatory region variant | C/T | snv | 0.37 | 0.700 | 1.000 | 2 | 2010 | 2016 | ||||
|
2 | 1 | 109348511 | intron variant | C/T | snv | 0.63 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 2 | 73673773 | intron variant | T/C;G | snv | 0.21; 3.9E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 7 | 151718450 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 33510429 | intron variant | C/T | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 7 | 1245559 | regulatory region variant | A/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 1.000 | 0.080 | 10 | 1019770 | stop gained | C/T | snv | 5.0E-02 | 6.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 11 | 55324098 | upstream gene variant | C/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.700 | 1.000 | 2 | 2017 | 2019 | |||
|
2 | 12 | 3258927 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 3 | 186104564 | intron variant | T/G | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 15 | 53646845 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 15 | 53648110 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 9 | 68819549 | intron variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1.000 | 0.080 | 12 | 240132 | intron variant | C/T | snv | 0.57 | 0.700 | 1.000 | 2 | 2010 | 2016 | ||||
|
1 | 15 | 98758306 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 1.000 | 0.080 | 10 | 1110225 | intron variant | T/C | snv | 0.89 | 0.700 | 1.000 | 2 | 2010 | 2016 | ||||
|
2 | 11 | 2095263 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 0.925 | 0.120 | 15 | 76012162 | 5 prime UTR variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 1.000 | 0.040 | 4 | 80259918 | intergenic variant | A/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1 | 82478888 | intron variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.925 | 0.120 | 10 | 50885488 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.925 | 0.120 | 10 | 50885664 | 5 prime UTR variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 12 | 255573 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 |