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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||
|
1 | 9 | 133261560 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 133261737 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 169552315 | intron variant | G/A | snv | 0.95 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 169238941 | intron variant | C/T | snv | 0.98 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186199599 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 169465789 | 3 prime UTR variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 11 | 47351874 | intron variant | T/C | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186303408 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186303240 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 154596690 | intergenic variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186285095 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 169620132 | intron variant | C/T | snv | 3.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186272154 | intron variant | A/T | snv | 0.86 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186284775 | intron variant | T/A;C | snv | 0.91 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 169501510 | downstream gene variant | T/G | snv | 0.95 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 186301117 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 169494280 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 169494281 | non coding transcript exon variant | T/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 133272620 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 133272816 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 133272953 | intron variant | C/G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 133269122 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 133269582 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |