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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.080 | 19 | 17641880 | intron variant | A/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.080 | 2 | 171824168 | intron variant | A/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 10 | 2747402 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
16 | 0.732 | 0.200 | 21 | 31667290 | missense variant | A/C;T | snv | 1.4E-03 | 1.2E-03 | 0.800 | 1.000 | 20 | 1993 | 2009 | |||
|
4 | 0.851 | 0.080 | 4 | 108706869 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
15 | 0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv | 0.890 | 1.000 | 40 | 1993 | 2014 | |||||
|
2 | 0.925 | 0.080 | 21 | 31663848 | missense variant | A/G | snv | 4.0E-06 | 0.810 | 1.000 | 27 | 1993 | 2012 | ||||
|
4 | 0.851 | 0.080 | 21 | 31667320 | missense variant | A/G | snv | 0.810 | 1.000 | 24 | 1993 | 2012 | |||||
|
2 | 1.000 | 0.080 | 2 | 74368870 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2004 | 2005 | |||
|
4 | 0.851 | 0.080 | 3 | 143629403 | intron variant | A/G | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 3 | 178681763 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 22 | 29272423 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.080 | 11 | 127846245 | intergenic variant | A/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 4 | 142054920 | intron variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.080 | 3 | 39492990 | intron variant | A/G | snv | 0.76 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.080 | 2 | 193714051 | intergenic variant | A/G | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 17 | 7579971 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 17 | 35844338 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 1 | 11022437 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 21 | 31667260 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 21 | 31659837 | missense variant | A/G;T | snv | 0.700 | 1.000 | 20 | 1993 | 2009 | |||||
|
1 | 1.000 | 0.080 | 21 | 31667278 | missense variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2005 | 2012 | |||||
|
4 | 0.882 | 0.080 | 21 | 31667331 | missense variant | A/T | snv | 0.720 | 1.000 | 22 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.080 | 12 | 104313402 | intron variant | A/T | snv | 0.93 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.080 | 14 | 67776358 | intron variant | C/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2014 | 2014 |