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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
20 | 0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 19 | 49496752 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 0.925 | 0.160 | 17 | 16945825 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 16 | 10987392 | intron variant | C/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1 | 232383404 | regulatory region variant | A/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
9 | 0.807 | 0.240 | 6 | 32619077 | intergenic variant | G/A | snv | 0.86 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 14 | 55062195 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 0.120 | 14 | 55413329 | upstream gene variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 14 | 55413451 | upstream gene variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55512820 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 0.040 | 14 | 55136284 | intron variant | T/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 14 | 55136343 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 14 | 55309657 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55714800 | intergenic variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 54849190 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55373374 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 54849552 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55530274 | intron variant | T/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55326730 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 14 | 55347662 | intron variant | T/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55168491 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 14 | 55168605 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 14 | 54825302 | intergenic variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 55370055 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |