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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 14 | 77396337 | intron variant | C/- | delins | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 6 | 22359286 | intron variant | G/A | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 2 | 218156235 | regulatory region variant | C/T | snv | 6.9E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 5 | 142130697 | intron variant | A/-;AA;AAA;AAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 19 | 48640988 | intron variant | -/G | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 6 | 16744456 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 14 | 92644775 | non coding transcript exon variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 17 | 59748211 | intron variant | A/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 4 | 74094279 | downstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 4 | 711285 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 5 | 69294573 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 7 | 50218107 | intron variant | T/A | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 3 | 47220756 | intron variant | C/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 4 | 7045375 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
9 | 1 | 247438293 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
7 | 10 | 24922362 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
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 |