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 | 1 | 201047168 | missense variant | G/A | snv | 0.12 | 8.9E-02 | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||
|
2 | 13 | 71773316 | intron variant | C/G | snv | 0.43 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
2 | 19 | 32867449 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
2 | 2 | 15652890 | intergenic variant | G/T | snv | 0.48 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
1 | 5 | 39393631 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
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 | ||||||
|
1 | 11 | 55324098 | upstream gene variant | C/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
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 | ||||||
|
1 | 15 | 98758306 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 11 | 2095263 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 1 | 82478888 | intron variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 12 | 255573 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 16 | 68329278 | intron variant | G/A | snv | 0.79 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 5 | 53999716 | intron variant | C/T | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 17 | 19571562 | missense variant | C/T | snv | 6.4E-03 | 6.1E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 12 | 75889574 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 7 | 77609361 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |