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 | 7 | 80654305 | intron variant | A/G | snv | 0.99 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 1 | 162323515 | intron variant | A/G | snv | 0.99 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 2 | 169358254 | intron variant | G/A | snv | 0.99 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 10 | 133370298 | intron variant | T/C | snv | 0.98 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 13 | 33279354 | non coding transcript exon variant | G/A | snv | 0.98 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 11 | 102959002 | upstream gene variant | A/G | snv | 0.98 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 201941435 | intron variant | C/T | snv | 0.98 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1 | 66222346 | intron variant | G/T | snv | 0.97 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 15 | 58568503 | intron variant | T/A | snv | 0.96 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 201943694 | intron variant | G/A | snv | 0.96 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 3 | 129976195 | intron variant | G/A | snv | 0.96 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 162350216 | intron variant | G/A | snv | 0.95 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 6 | 52795833 | intron variant | T/C | snv | 0.95 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
9 | 0.925 | 0.040 | 11 | 116741017 | intergenic variant | C/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1 | 201946530 | 5 prime UTR variant | A/C | snv | 0.92 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
18 | 0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
10 | 1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
3 | 2 | 21028168 | intron variant | T/G | snv | 0.87 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
9 | 1.000 | 8 | 9327636 | intron variant | T/C | snv | 0.87 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 2 | 21037729 | intron variant | G/A | snv | 0.86 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 2 | 21040767 | intron variant | T/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
8 | 0.827 | 0.280 | 1 | 55058564 | missense variant | G/A | snv | 0.86 | 0.83 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1 | 55062245 | intron variant | C/T | snv | 0.83 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
2 | 1 | 55061806 | intron variant | A/G | snv | 0.82 | 0.700 | 1.000 | 1 | 2012 | 2012 |