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 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 5 | 158392616 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 5 | 32832368 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 5 | 132373185 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 5 | 62258054 | regulatory region variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 75742606 | intergenic variant | T/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 140848521 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 8 | 8515975 | intergenic variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 81937217 | intergenic variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 12 | 19831845 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 100028412 | intron variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 18 | 33581462 | intron variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 2 | 223171819 | intron variant | C/A;G;T | snv | 4.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 19508931 | intron variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 181081388 | intron variant | A/T | snv | 0.77 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 72256200 | intron variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 24907673 | intron variant | A/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
12 | 0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 7 | 27207660 | downstream gene variant | G/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 7 | 27249498 | intron variant | G/A | snv | 0.87 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 7 | 45970501 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 7 | 50729988 | intron variant | G/A | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 8 | 55901862 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 20 | 10787163 | intron variant | G/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 |