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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
37 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 0.900 | 0.961 | 51 | 2007 | 2020 | |||
|
1 | 1.000 | 0.040 | 2 | 233250193 | intron variant | C/A;T | snv | 0.810 | 1.000 | 2 | 2007 | 2010 | |||||
|
1 | 1.000 | 0.040 | 2 | 233275771 | non coding transcript exon variant | G/A | snv | 0.45 | 0.42 | 0.800 | 1.000 | 2 | 2010 | 2013 | |||
|
2 | 1.000 | 0.040 | 2 | 233264857 | intron variant | G/A;C | snv | 0.45; 4.0E-06 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 2 | 233271764 | intron variant | A/G | snv | 0.42 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.120 | 2 | 233260144 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.724 | 0.240 | 2 | 233276621 | intron variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 233252937 | intron variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 2 | 233252802 | intron variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.120 | 2 | 233282746 | missense variant | G/A;T | snv | 0.060 | 1.000 | 6 | 2007 | 2016 | |||||
|
3 | 0.882 | 0.080 | 2 | 233274822 | intron variant | G/A | snv | 0.45 | 0.44 | 0.030 | 1.000 | 3 | 2008 | 2012 | |||
|
1 | 1.000 | 0.040 | 2 | 233270020 | synonymous variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.040 | 2 | 233293259 | synonymous variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 2 | 233282094 | intron variant | T/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 2 | 233283605 | intron variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.080 | 2 | 233285017 | intron variant | A/T | snv | 5.1E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 2 | 233293054 | intron variant | G/C | snv | 7.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 2 | 233261751 | intron variant | G/A | snv | 0.62 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 233290815 | intron variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 2 | 233265070 | synonymous variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 2 | 233270018 | synonymous variant | C/T | snv | 9.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 2 | 233273764 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 2 | 233273776 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |