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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 12 | 14434367 | missense variant | A/G | snv | 0.47 | 0.42 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 12 | 14389607 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 12 | 14439909 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 14381492 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 1.000 | 0.040 | 12 | 14458588 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 12 | 14428515 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
6 | 0.882 | 0.200 | 12 | 14500933 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 12 | 14471640 | intron variant | A/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 14459389 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 14368442 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 12 | 14440968 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 14380556 | intron variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 14395380 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 12 | 14422525 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |