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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||
|
7 | 0.882 | 0.120 | 12 | 57415673 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 16 | 68329278 | intron variant | G/A | snv | 0.79 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 0.080 | 2 | 113209498 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
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 | |||||||
|
2 | 5 | 68443447 | regulatory region variant | G/A;T | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 32632634 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 20 | 62813587 | missense variant | G/C;T | snv | 9.8E-02; 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 1.000 | 0.040 | 20 | 58903791 | splice region variant | C/G;T | snv | 4.0E-06; 2.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 11 | 65784177 | upstream gene variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 17 | 61155004 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 17 | 61372744 | intron variant | T/C | snv | 0.69 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 19 | 37973622 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 5 | 151727535 | upstream gene variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 5 | 68524390 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 1 | 15543404 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 109471548 | intron variant | G/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 112706169 | 5 prime UTR variant | C/A;G | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 |