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 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 0.857 | 2 | 2008 | 2018 | |||
|
4 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.860 | 0.900 | 3 | 2008 | 2015 | |||
|
2 | 0.827 | 0.240 | 6 | 137878280 | intron variant | G/T | snv | 0.58 | 0.860 | 1.000 | 3 | 2009 | 2015 | ||||
|
3 | 0.742 | 0.200 | 6 | 111592059 | missense variant | C/T | snv | 8.6E-02 | 9.7E-02 | 0.850 | 1.000 | 2 | 2010 | 2019 | |||
|
1 | 0.882 | 0.040 | 17 | 80205094 | missense variant | C/T | snv | 0.41 | 0.40 | 0.840 | 1.000 | 1 | 2012 | 2016 | |||
|
2 | 0.851 | 0.120 | 6 | 31285148 | intron variant | C/T | snv | 0.12 | 0.830 | 1.000 | 2 | 2009 | 2015 | ||||
|
3 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.830 | 1.000 | 1 | 2009 | 2016 | |||||
|
2 | 0.851 | 0.160 | 5 | 151098757 | downstream gene variant | G/A | snv | 7.1E-02 | 0.820 | 1.000 | 4 | 2009 | 2015 | ||||
|
1 | 0.882 | 0.280 | 17 | 27779649 | intron variant | A/G | snv | 0.31 | 0.820 | 1.000 | 3 | 2010 | 2015 | ||||
|
7 | 0.790 | 0.320 | 6 | 31464003 | non coding transcript exon variant | T/G | snv | 2.7E-02 | 2.4E-02 | 0.820 | 1.000 | 1 | 2008 | 2014 | |||
|
1 | 0.851 | 0.120 | 1 | 152578800 | downstream gene variant | A/G;T | snv | 0.820 | 1.000 | 1 | 2009 | 2011 | |||||
|
2 | 0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 | 0.810 | 1.000 | 3 | 2008 | 2018 | ||||
|
7 | 0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 | 0.810 | 1.000 | 3 | 2010 | 2018 | ||||
|
2 | 0.807 | 0.280 | 12 | 56344189 | intron variant | A/G | snv | 0.21 | 0.810 | 1.000 | 3 | 2009 | 2015 | ||||
|
1 | 0.925 | 0.120 | 20 | 49905793 | synonymous variant | G/A | snv | 0.44 | 0.35 | 0.810 | 1.000 | 3 | 2008 | 2015 | |||
|
1 | 0.925 | 0.080 | 14 | 35363460 | intron variant | T/G | snv | 0.60 | 0.810 | 1.000 | 3 | 2010 | 2015 | ||||
|
6 | 0.807 | 0.120 | 17 | 27797882 | intron variant | G/A | snv | 0.11 | 0.810 | 1.000 | 2 | 2012 | 2016 | ||||
|
3 | 0.882 | 0.080 | 10 | 79273128 | intron variant | G/A | snv | 0.32 | 0.810 | 1.000 | 1 | 2012 | 2012 | ||||
|
20 | 0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 | 0.810 | 1.000 | 1 | 2012 | 2018 | |||
|
1 | 0.851 | 0.160 | 1 | 24193430 | intergenic variant | G/A | snv | 0.61 | 0.810 | 1.000 | 1 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.040 | 9 | 32523739 | intron variant | T/C | snv | 0.41 | 0.800 | 1.000 | 3 | 2012 | 2015 | ||||
|
2 | 0.925 | 0.040 | 2 | 162404181 | intron variant | T/C | snv | 9.6E-02 | 0.800 | 1.000 | 3 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.040 | 6 | 111352511 | intron variant | T/A;C | snv | 0.800 | 1.000 | 3 | 2010 | 2015 | |||||
|
5 | 0.776 | 0.320 | 6 | 137876687 | intron variant | C/T | snv | 0.70 | 0.800 | 1.000 | 3 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.040 | 16 | 30931304 | intron variant | G/A | snv | 0.53 | 0.800 | 1.000 | 2 | 2010 | 2015 |