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 | 1 | 207630796 | intron variant | A/C | snv | 0.84 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 3 | 9757233 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.160 | 19 | 44895459 | intron variant | A/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 2 | 127072643 | intron variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 43337677 | intron variant | A/C | snv | 5.2E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 26471784 | intron variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 8 | 83267319 | intergenic variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 21 | 26021995 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 11 | 60231490 | intron variant | A/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 14 | 64249911 | intron variant | A/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.790 | 0.200 | 17 | 45815154 | intron variant | A/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.827 | 0.120 | 9 | 104899461 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 110628530 | intron variant | A/C | snv | 0.26 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.716 | 0.360 | 15 | 51210647 | 3 prime UTR variant | A/C | snv | 0.67 | 0.70 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
8 | 0.790 | 0.240 | 14 | 73192647 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.080 | 14 | 73192828 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 1.000 | 0.080 | 6 | 61987841 | intron variant | A/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 7 | 55147325 | intron variant | A/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 19 | 44916825 | intron variant | A/C | snv | 8.6E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 22 | 44130225 | intron variant | A/C | snv | 2.3E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 127126547 | intergenic variant | A/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 184277413 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.160 | 8 | 102296172 | intron variant | A/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 60169453 | downstream gene variant | A/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 8 | 83837822 | intergenic variant | A/C | snv | 6.2E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 |