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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.120 | 2 | 201141373 | splice acceptor variant | G/A | snv | 0.18 | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
29 | 0.645 | 0.440 | 8 | 23201811 | missense variant | C/G | snv | 0.54 | 0.44 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.790 | 0.320 | 6 | 31106253 | downstream gene variant | A/C | snv | 0.66 | 0.750 | 1.000 | 5 | 2009 | 2014 | ||||
|
23 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.200 | 6 | 31617223 | upstream gene variant | T/A | snv | 0.74 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.200 | 6 | 31675622 | downstream gene variant | T/A;C | snv | 0.74 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.020 | 1.000 | 2 | 2012 | 2014 | |||
|
1 | 1.000 | 0.120 | 6 | 32377763 | intron variant | T/G | snv | 1.0E-01 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.807 | 0.320 | 6 | 32408694 | upstream gene variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.200 | 6 | 32412485 | downstream gene variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 32450114 | intergenic variant | C/A;G | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32451687 | intergenic variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32455244 | downstream gene variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32456603 | downstream gene variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32457895 | downstream gene variant | G/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.790 | 0.440 | 6 | 32461866 | intron variant | T/C | snv | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 6 | 32544836 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32559302 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 6 | 32601910 | intergenic variant | A/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32668069 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 6 | 32684540 | regulatory region variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.160 | 6 | 32693166 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |