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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 8 | 67900953 | intergenic variant | C/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 8 | 23109256 | intron variant | G/A | snv | 0.83 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 17 | 40007042 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 1 | 8853597 | upstream gene variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 17 | 16265470 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 4 | 71752058 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 12 | 53354069 | regulatory region variant | A/T | snv | 7.6E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 2 | 168850753 | intron variant | TCTCTGGAAT/-;TCTCTGGAATTCTCTGGAAT | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
7 | 11 | 118210555 | missense variant | C/T | snv | 4.0E-03 | 3.5E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 3 | 141208279 | intergenic variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 11 | 308314 | missense variant | T/C;G | snv | 0.53 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 2 | 218297998 | intron variant | -/C | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 6 | 135328483 | intron variant | TGCCATAAACCATAGCCATAG/-;TGCCATAAACCATAGCCATAGTGCCATAAACCATAGCCATAG | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 17 | 40017384 | 3 prime UTR variant | C/T | snv | 9.6E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 18 | 23571654 | intron variant | AAAA/-;A;AA;AAA;AAAAA;AAAAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
9 | 9 | 132989126 | synonymous variant | C/T | snv | 4.1E-03 | 4.1E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 13 | 49547375 | intron variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 18 | 44533186 | intron variant | T/C | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 11 | 61812288 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1 | 226986191 | intron variant | T/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 11 | 108378047 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 19 | 7782850 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 9 | 305428 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 8 | 129612570 | intron variant | C/T | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 8 | 10848901 | downstream gene variant | C/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2016 | 2016 |