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 | 4 | 153470288 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 5 | 95826771 | upstream gene variant | G/A | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 17 | 20062570 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 2 | 206080351 | intron variant | G/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 24914454 | intron variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 4172971 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 56152275 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 20 | 4182655 | synonymous variant | A/G | snv | 0.61 | 0.60 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 3 | 72238120 | intron variant | CT/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 2 | 164696196 | non coding transcript exon variant | -/AATAA;AGTAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 56467292 | intron variant | AAAAA/-;A;AA;AAA;AAAA;AAAAAA;AAAAAAA;AAAAAAAA | delins | 0.87 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 218273447 | intron variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 12 | 56644387 | intron variant | A/-;AA | delins | 0.42 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 11 | 8825494 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 11 | 8824822 | intron variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 11 | 64085244 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 183873970 | intron variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 134700205 | intergenic variant | T/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 70884621 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 24913109 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 17 | 82526070 | intron variant | G/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 17 | 41849398 | 3 prime UTR variant | A/G | snv | 0.90 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 103011454 | intron variant | -/TAAAA | delins | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 6679939 | downstream gene variant | -/TTAG | delins | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 906510 | intron variant | G/A | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 |