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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.120 | 1 | 200132792 | intron variant | A/G | snv | 0.84 | 0.800 | 1.000 | 4 | 2012 | 2017 | ||||
|
7 | 0.851 | 0.200 | 21 | 39093608 | intergenic variant | G/A | snv | 0.23 | 0.800 | 1.000 | 4 | 2010 | 2017 | ||||
|
5 | 0.827 | 0.120 | 1 | 19816373 | intron variant | C/T | snv | 0.36 | 0.800 | 1.000 | 4 | 2009 | 2016 | ||||
|
3 | 0.925 | 0.040 | 1 | 200908434 | intron variant | C/A | snv | 0.22 | 0.800 | 1.000 | 4 | 2009 | 2017 | ||||
|
6 | 0.827 | 0.120 | 2 | 60977721 | intron variant | A/G | snv | 0.37 | 0.800 | 1.000 | 4 | 2011 | 2017 | ||||
|
6 | 0.827 | 0.120 | 13 | 40439840 | intron variant | T/C | snv | 0.77 | 0.800 | 1.000 | 4 | 2011 | 2017 | ||||
|
3 | 0.925 | 0.040 | 9 | 136371953 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.800 | 1.000 | 3 | 2011 | 2017 | |||
|
2 | 1.000 | 0.040 | 16 | 30471173 | upstream gene variant | T/A;C;G | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
4 | 1.000 | 0.040 | 1 | 22375738 | intergenic variant | T/C | snv | 0.21 | 0.800 | 1.000 | 3 | 2009 | 2017 | ||||
|
2 | 1.000 | 0.040 | 16 | 85980635 | intron variant | T/C | snv | 0.15 | 0.800 | 1.000 | 3 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.040 | 15 | 41271752 | intron variant | A/G | snv | 0.25 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
9 | 0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 | 0.800 | 1.000 | 3 | 2009 | 2016 | ||||
|
16 | 0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 | 0.800 | 1.000 | 3 | 2011 | 2015 | ||||
|
2 | 1.000 | 0.040 | 7 | 107839870 | intergenic variant | T/A;C;G | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
2 | 1.000 | 0.040 | 11 | 96290263 | intron variant | G/A | snv | 0.26 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
2 | 0.925 | 0.120 | 22 | 49997051 | missense variant | A/G | snv | 0.56 | 0.55 | 0.800 | 1.000 | 3 | 2010 | 2017 | |||
|
14 | 0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 | 0.800 | 1.000 | 3 | 2011 | 2017 | ||||
|
4 | 1.000 | 0.040 | 7 | 2750246 | intron variant | A/C;G | snv | 0.800 | 1.000 | 3 | 2011 | 2017 | |||||
|
4 | 0.882 | 0.160 | 11 | 1852842 | upstream gene variant | G/A | snv | 0.26 | 0.800 | 1.000 | 3 | 2011 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 2569899 | downstream gene variant | C/T | snv | 0.51 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
3 | 0.925 | 0.120 | 1 | 161502368 | upstream gene variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2010 | 2015 | |||||
|
1 | 1.000 | 0.040 | 5 | 593968 | intergenic variant | T/C | snv | 0.29 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
2 | 0.925 | 0.120 | 12 | 68110812 | intron variant | G/A | snv | 0.41 | 0.800 | 1.000 | 2 | 2009 | 2010 | ||||
|
2 | 1.000 | 0.040 | 2 | 198658398 | intron variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2015 | |||||
|
14 | 0.732 | 0.280 | 11 | 76588150 | upstream gene variant | G/T | snv | 0.52 | 0.800 | 1.000 | 2 | 2011 | 2015 |