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 | 11 | 8100687 | intron variant | -/AT | delins | 3.5E-04 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 21070463 | regulatory region variant | -/GA;GACTCAAAGTACACATTTCCTAGA | delins | 0.69 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 72193030 | intergenic variant | -/GT;GTGT | ins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 1 | 109275536 | 3 prime UTR variant | -/T | ins | 0.74 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 11 | 126369248 | intron variant | -/T;TT | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 10 | 45483784 | intron variant | -/TGTTAAGTCAAATAA;TGTTAAGTGAAATAA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1 | 92671973 | intron variant | A/-;AA;AAA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1 | 234717521 | intron variant | A/C | snv | 0.65 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
9 | 0.827 | 0.120 | 9 | 104899461 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
1 | 10 | 100193948 | non coding transcript exon variant | A/C | snv | 0.30 | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 5 | 132073149 | upstream gene variant | A/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 21 | 34484464 | intron variant | A/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
7 | 1 | 112648185 | intron variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 3 | 12428740 | intron variant | A/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 8 | 115636338 | intron variant | A/C | snv | 0.48 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
16 | 0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 2 | 68380846 | missense variant | A/C | snv | 6.7E-03 | 1.9E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 9 | 104893841 | intron variant | A/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 2 | 20998163 | downstream gene variant | A/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 234715469 | intron variant | A/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 35089051 | 3 prime UTR variant | A/C | snv | 1.00 | 0.98 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 1.000 | 0.040 | 2 | 21047682 | upstream gene variant | A/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 8 | 97963444 | intron variant | A/C | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
7 | 16 | 56965346 | intron variant | A/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 9 | 114415286 | intron variant | A/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 |