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 | 17 | 28816792 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 17 | 28840955 | intron variant | C/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28805724 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28792506 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 17 | 28839688 | intron variant | A/T | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28758546 | synonymous variant | A/G | snv | 0.21 | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 17 | 28809674 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28811799 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28802544 | non coding transcript exon variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28755692 | downstream gene variant | C/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28760911 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28786708 | intron variant | G/C;T | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28819371 | intron variant | G/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28819479 | intron variant | G/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28824480 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28779752 | intron variant | TAAATAAATAAATAAATAAATAAATAAA/-;TAAATAAATAAA;TAAATAAATAAATAAA;TAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 17 | 28761418 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 17 | 28761608 | intron variant | C/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28818106 | intron variant | T/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28834120 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28798449 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28777522 | intron variant | A/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 17 | 28851743 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28855926 | intron variant | G/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 28823732 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 |