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 | 12 | 123935181 | intron variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 104916546 | intron variant | T/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
9 | 0.882 | 0.120 | 1 | 149934520 | missense variant | T/C | snv | 0.33 | 0.29 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 1 | 72371807 | intron variant | C/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 18 | 60208994 | intergenic variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 19 | 45676926 | intron variant | C/T | snv | 0.18 | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 7 | 75533848 | 3 prime UTR variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 2 | 25260101 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 2 | 66544868 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 12 | 123920171 | intron variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 16 | 28837347 | upstream gene variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 3 | 72406204 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1 | 78212446 | intergenic variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 13 | 53528071 | intron variant | G/A;T | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
7 | 1.000 | 0.080 | 16 | 19924067 | intergenic variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 3 | 172204265 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 4 | 45177866 | intergenic variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1 | 118310352 | regulatory region variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 14 | 29267632 | non coding transcript exon variant | C/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 6 | 6738122 | intron variant | C/T | snv | 0.63 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1.000 | 0.080 | 18 | 60192330 | upstream gene variant | C/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 2 | 25263901 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 3 | 138385085 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 3 | 52615732 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 |