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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.882 | 0.080 | 12 | 89615182 | intron variant | A/G | snv | 0.14 | 0.860 | 1.000 | 2 | 2009 | 2019 | ||||
|
31 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.840 | 1.000 | 1 | 2011 | 2019 | |||
|
7 | 0.827 | 0.200 | 16 | 20354332 | intron variant | A/G | snv | 0.23 | 0.810 | 1.000 | 2 | 2010 | 2016 | ||||
|
4 | 1 | 112673921 | intron variant | A/C;G | snv | 0.810 | 1.000 | 1 | 2011 | 2013 | |||||||
|
5 | 10 | 18131043 | intergenic variant | G/C;T | snv | 0.810 | 1.000 | 1 | 2011 | 2013 | |||||||
|
1 | 5 | 133686160 | intergenic variant | C/T | snv | 0.34 | 0.810 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 0.882 | 0.120 | 12 | 89666809 | intron variant | G/A | snv | 0.15 | 0.800 | 0.929 | 3 | 2010 | 2019 | ||||
|
10 | 0.925 | 0.080 | 11 | 100722807 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2018 | |||||
|
8 | 0.882 | 0.040 | 10 | 18419869 | intron variant | A/T | snv | 0.27 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 5 | 32814922 | regulatory region variant | A/G | snv | 0.65 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
5 | 5 | 158418394 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
30 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 1.000 | 0.040 | 20 | 59183665 | intron variant | A/G | snv | 0.14 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.925 | 0.080 | 15 | 90894158 | intron variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.040 | 1 | 239273242 | intergenic variant | A/T | snv | 0.21 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
7 | 20 | 59176062 | intron variant | A/G | snv | 0.14 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
7 | 0.925 | 0.160 | 6 | 31648589 | intron variant | G/A | snv | 0.45 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 10 | 94136183 | intron variant | A/G | snv | 0.38 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
7 | 0.882 | 0.080 | 10 | 103086421 | 3 prime UTR variant | T/C | snv | 8.6E-02 | 0.780 | 1.000 | 1 | 2011 | 2018 | ||||
|
8 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 0.760 | 0.857 | 1 | 2011 | 2018 | |||
|
9 | 0.925 | 0.120 | 4 | 80263187 | upstream gene variant | A/G;T | snv | 0.760 | 0.857 | 1 | 2010 | 2018 | |||||
|
3 | 3 | 27507409 | regulatory region variant | A/G | snv | 0.30 | 0.710 | 1.000 | 2 | 2015 | 2018 | ||||||
|
18 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 0.710 | 1.000 | 1 | 2014 | 2015 | ||||
|
4 | 12 | 89595822 | intron variant | G/A | snv | 0.60 | 0.710 | 1.000 | 1 | 2013 | 2018 | ||||||
|
9 | 0.925 | 0.120 | 4 | 80243569 | intergenic variant | C/T | snv | 0.23 | 0.710 | 1.000 | 1 | 2015 | 2018 |