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 | 1.000 | 0.080 | 17 | 49424571 | non coding transcript exon variant | -/C | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 10 | 104055483 | intron variant | -/C;CAC;CACAC | ins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 5 | 35942940 | upstream gene variant | A/C | snv | 0.23 | 0.800 | 1.000 | 2 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.160 | 17 | 39877024 | 3 prime UTR variant | A/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 12 | 6383483 | intron variant | A/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 46267043 | non coding transcript exon variant | A/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 67326053 | intron variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 22 | 39298220 | downstream gene variant | A/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 4 | 102625147 | intergenic variant | A/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 10 | 104055483 | intron variant | A/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 17 | 46025499 | 3 prime UTR variant | A/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 17 | 46026977 | 3 prime UTR variant | A/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 20 | 8789461 | intron variant | A/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 4 | 102633753 | intron variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.240 | 1 | 67336688 | intron variant | A/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 4 | 102634260 | intron variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 4 | 102632759 | intron variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 46012782 | intron variant | A/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 59384874 | intron variant | A/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 45949124 | intron variant | A/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.360 | 6 | 32440267 | intron variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 17 | 39391378 | intron variant | A/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 104066661 | intron variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 159992311 | intron variant | A/C;G | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
2 | 1.000 | 0.080 | 17 | 46050759 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |