| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.860 | 0.900 | 3 | 2005 | 2018 | |||||||
|
1.000 | 0.040 | 1 | 8466082 | intron variant | G/A | snv | 0.68 |
|
0.800 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.882 | 0.120 | 1 | 8441726 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.807 | 0.280 | 3 | 188394766 | intron variant | C/A;T | snv |
|
0.810 | 1.000 | 3 | 2010 | 2015 | |||||||||
|
1.000 | 0.040 | 3 | 188371466 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2010 | 2016 | ||||||||
|
1.000 | 0.040 | 3 | 188396801 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 3 | 188406566 | intron variant | C/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 3 | 71523984 | intron variant | T/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 3 | 119569567 | intergenic variant | A/C;T | snv |
|
0.810 | 1.000 | 1 | 2012 | 2015 | |||||||||
|
1.000 | 0.040 | 3 | 188369840 | intron variant | C/T | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 4 | 10725229 | intergenic variant | C/T | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 6 | 29969350 | downstream gene variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.827 | 0.280 | 6 | 32405921 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2012 | |||||||||
|
0.882 | 0.120 | 6 | 32610275 | intergenic variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.882 | 0.160 | 6 | 167092303 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2010 | 2012 | |||||||||
|
0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 30438979 | intergenic variant | C/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 30103983 | non coding transcript exon variant | T/C | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.040 | 6 | 31869289 | intron variant | C/T | snv | 2.9E-02 | 4.5E-02 |
|
0.810 | 0.500 | 1 | 2010 | 2013 | |||||||
|
1.000 | 0.040 | 6 | 30461256 | intergenic variant | T/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 30211411 | intron variant | G/C | snv | 3.2E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.776 | 0.320 | 6 | 32107027 | intron variant | T/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.240 | 6 | 32059031 | intron variant | G/A | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 31039780 | downstream gene variant | G/A | snv | 2.7E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |