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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 12 | 120965921 | splice region variant | G/A | snv | 0.59 | 0.800 | 1.000 | 5 | 2012 | 2019 | ||||
|
1 | 1 | 159706381 | upstream gene variant | T/C | snv | 5.6E-02 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||||
|
1 | 1 | 159719598 | intergenic variant | T/A | snv | 0.32 | 0.700 | 1.000 | 4 | 2012 | 2014 | ||||||
|
8 | 0.827 | 0.280 | 12 | 120997784 | synonymous variant | G/A;T | snv | 6.7E-06; 0.40 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
2 | 1 | 159706221 | upstream gene variant | G/A | snv | 0.31 | 0.700 | 1.000 | 4 | 2012 | 2014 | ||||||
|
3 | 0.925 | 0.160 | 1 | 159707006 | upstream gene variant | G/A | snv | 0.31 | 0.700 | 1.000 | 4 | 2012 | 2014 | ||||
|
3 | 0.925 | 0.160 | 12 | 120965129 | intron variant | C/T | snv | 0.28 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
3 | 1.000 | 0.080 | 1 | 159705143 | non coding transcript exon variant | C/T | snv | 0.34 | 0.800 | 1.000 | 4 | 2012 | 2019 | ||||
|
1 | 1 | 159679910 | intergenic variant | C/T | snv | 5.3E-02 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||||
|
1 | 1 | 159699194 | intergenic variant | C/T | snv | 0.34 | 0.700 | 1.000 | 3 | 2012 | 2013 | ||||||
|
2 | 1.000 | 0.080 | 1 | 159730249 | intergenic variant | A/G | snv | 6.8E-02 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||
|
1 | 1 | 159736723 | intergenic variant | T/C | snv | 7.6E-02 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||||
|
1 | 1 | 159736770 | intergenic variant | T/C | snv | 0.15 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||||
|
1 | 1 | 159683809 | intergenic variant | C/T | snv | 0.36 | 0.700 | 1.000 | 3 | 2012 | 2013 | ||||||
|
1 | 1 | 159684073 | intergenic variant | C/A | snv | 5.5E-02 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||||
|
1 | 1 | 159706430 | upstream gene variant | A/G | snv | 5.6E-02 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||||
|
1 | 1 | 159727685 | intergenic variant | T/C | snv | 7.4E-02 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||||
|
9 | 0.882 | 0.160 | 12 | 120979185 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 3 | 2012 | 2013 | ||||
|
1 | 1 | 159683149 | intergenic variant | C/T | snv | 0.43 | 0.700 | 1.000 | 3 | 2012 | 2013 | ||||||
|
10 | 0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||
|
1 | 1 | 159696131 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2012 | 2013 | |||||||
|
5 | 0.882 | 0.120 | 1 | 159710123 | upstream gene variant | G/T | snv | 0.13 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||
|
9 | 0.827 | 0.200 | 1 | 159709846 | upstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 3 | 2012 | 2014 | |||||
|
2 | 12 | 120982457 | intron variant | A/C;G | snv | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||||
|
1 | 12 | 120967407 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 2 | 2012 | 2013 |