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 | 18045473 | upstream gene variant | -/A | delins | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 19 | 19009572 | intron variant | -/G | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 20 | 45928576 | non coding transcript exon variant | -/G;GAG;GAGAG | ins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 3 | 136406836 | intron variant | -/GAATTAAA | delins | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 1 | 109275536 | 3 prime UTR variant | -/T | ins | 0.74 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 75841535 | intron variant | A/-;AA | delins | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 17 | 28395021 | 3 prime UTR variant | A/-;AA;AAA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
9 | 0.827 | 0.120 | 9 | 104899461 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 5 | 2015 | 2019 | ||||
|
4 | 1.000 | 0.040 | 11 | 116746524 | downstream gene variant | A/C | snv | 0.11 | 0.800 | 1.000 | 2 | 2011 | 2019 | ||||
|
6 | 2 | 20998163 | downstream gene variant | A/C | snv | 0.76 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 8 | 29502788 | intergenic variant | A/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 17 | 39590106 | intergenic variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 49986605 | intron variant | A/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 68483300 | intron variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 132032931 | intron variant | A/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 18 | 50057046 | intron variant | A/C | snv | 1.0E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 117349713 | intron variant | A/C | snv | 9.4E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
16 | 0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 11 | 35155029 | intron variant | A/C | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 9 | 104893841 | intron variant | A/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1 | 107436774 | synonymous variant | A/C | snv | 0.99 | 0.95 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 19 | 33405526 | intron variant | A/C | snv | 0.69 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 11 | 113235826 | intron variant | A/C | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 2 | 218436132 | intron variant | A/C | snv | 0.94 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 139015171 | upstream gene variant | A/C | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |