| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 63685698 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
3 | 133731195 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
3 | 133754781 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
3 | 133745258 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
3 | 133714626 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
3 | 133782563 | 3 prime UTR variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
12 | 112971371 | 3 prime UTR variant | G/A | snv | 3.7E-03 |
|
0.800 | 1.000 | 1 | 2011 | 2017 | ||||||||||
|
0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 |
|
0.800 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 |
|
0.800 | 1.000 | 1 | 2011 | 2017 | ||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | |||||||
|
0.925 | 0.120 | 12 | 111730205 | intron variant | G/A | snv | 5.9E-03 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 52796511 | missense variant | A/G | snv | 1.6E-03 | 6.4E-03 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
5 | 118824240 | intergenic variant | A/C | snv | 4.5E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 3 | 133756968 | missense variant | G/A | snv | 5.2E-02 | 4.5E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 133747311 | intron variant | C/T | snv | 7.0E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
9 | 14441679 | intron variant | G/A | snv | 7.6E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
3 | 133747378 | intron variant | A/G | snv | 8.0E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 133756878 | synonymous variant | C/T | snv | 0.13 | 0.11 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
3 | 133844095 | intron variant | T/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 133822039 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
8 | 72917865 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
3 | 133862615 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |