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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 7 | 100747483 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
4 | 6 | 135114363 | intergenic variant | T/C | snv | 0.19 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 6 | 25658944 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 3 | 49855463 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 14 | 72996771 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 6 | 109305762 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 17 | 73199810 | intron variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 119736926 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 19 | 12937794 | upstream gene variant | A/G | snv | 0.70 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 8 | 129591389 | intron variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 21489977 | intron variant | A/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 105134327 | intron variant | C/T | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 10 | 69340132 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 11 | 65583893 | non coding transcript exon variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 2 | 144435759 | intron variant | C/T | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 2 | 10059474 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 2 | 46131396 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 2 | 181075915 | intron variant | G/A | snv | 0.76 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 2 | 110852366 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 54572462 | intron variant | G/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 26413499 | intron variant | A/C | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 6 | 135190449 | intron variant | G/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 7 | 47595969 | intergenic variant | T/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
18 | 0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 4 | 147536174 | intron variant | T/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 |