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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 2 | 22599287 | intergenic variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 5 | 180044201 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 1.000 | 0.080 | 11 | 61798436 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 5 | 75742893 | intergenic variant | C/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.040 | 2 | 20901018 | intergenic variant | C/T | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 | 0.800 | 1.000 | 3 | 2009 | 2012 | ||||
|
8 | 0.882 | 0.120 | 19 | 19547663 | downstream gene variant | G/T | snv | 0.10 | 0.800 | 1.000 | 3 | 2008 | 2012 | ||||
|
10 | 0.851 | 0.080 | 1 | 109278889 | downstream gene variant | T/G | snv | 0.63 | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||
|
5 | 2 | 21021128 | intron variant | G/T | snv | 0.35 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
8 | 19 | 44917997 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
3 | 19 | 11091784 | intron variant | T/A | snv | 6.4E-03 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
4 | 19 | 11087511 | upstream gene variant | C/T | snv | 0.16 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
4 | 19 | 11116650 | intron variant | C/A;G | snv | 0.34 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
6 | 1.000 | 0.080 | 19 | 44885917 | intron variant | T/A | snv | 0.11 | 0.16 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
3 | 19 | 44917086 | intron variant | G/A | snv | 7.9E-02 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
8 | 0.925 | 0.160 | 1 | 109272258 | intron variant | C/T | snv | 0.17 | 0.21 | 0.700 | 1.000 | 2 | 2008 | 2012 | |||
|
3 | 1 | 55053501 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||||
|
3 | 19 | 10277786 | intron variant | G/A | snv | 2.1E-03 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
7 | 8 | 125467073 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
5 | 0.925 | 0.120 | 19 | 44907187 | non coding transcript exon variant | G/A | snv | 0.39 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
3 | 2 | 21044589 | upstream gene variant | G/A | snv | 0.25 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
2 | 10 | 112970444 | intron variant | A/G | snv | 4.2E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 8 | 10111284 | intron variant | T/C | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 8 | 10156645 | intron variant | G/C | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 7 | 142672656 | downstream gene variant | T/C | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |