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 | 4 | 186306297 | intron variant | T/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 133253276 | non coding transcript exon variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 133253350 | non coding transcript exon variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 4 | 154616169 | upstream gene variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 154593727 | upstream gene variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 154617318 | upstream gene variant | T/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 48042642 | intron variant | G/A | snv | 9.9E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 47368220 | intron variant | C/G | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 47899441 | regulatory region variant | G/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 169191220 | intron variant | C/T | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 47576929 | intron variant | G/A | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 47926342 | intergenic variant | C/T | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 47762062 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 4 | 186274397 | 3 prime UTR variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 133265051 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1 | 169165889 | intron variant | A/C | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 133402020 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 133265724 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 133289021 | intergenic variant | T/G | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 169498416 | non coding transcript exon variant | G/A | snv | 0.98 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 0.882 | 0.160 | 4 | 186271327 | intron variant | T/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 4 | 186275356 | intron variant | G/A | snv | 0.49 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 154614029 | upstream gene variant | T/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 4 | 154606284 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 154604543 | 3 prime UTR variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 |