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 | 2 | 159333698 | intron variant | A/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 8 | 48899642 | regulatory region variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 10 | 62465689 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 2 | 159213245 | intron variant | A/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 8 | 104945312 | intron variant | A/G | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 12 | 50819650 | synonymous variant | A/G | snv | 6.7E-02 | 6.4E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 22 | 39291479 | upstream gene variant | A/G | snv | 0.90 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 11370822 | intergenic variant | A/G | snv | 0.82 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 2 | 135149518 | intron variant | A/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 14 | 87039904 | intergenic variant | A/T | snv | 8.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 4 | 116333133 | intergenic variant | A/T | snv | 0.78 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
5 | 0.925 | 0.080 | 6 | 7575386 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.080 | 14 | 23393437 | missense variant | C/A;T | snv | 9.3E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 15 | 73323818 | missense variant | C/A;T | snv | 3.2E-03 | 0.700 | 0 | |||||||||
|
2 | 5 | 153677988 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 54120613 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 12 | 127308069 | intergenic variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 14 | 23563861 | splice region variant | C/T | snv | 0.18 | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.925 | 0.040 | 14 | 100159565 | missense variant | C/T | snv | 0.73 | 0.76 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 12 | 75826838 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 157923692 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 179701951 | intron variant | G/A | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 0.925 | 0.080 | 21 | 17414857 | regulatory region variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 5 | 113694467 | intergenic variant | G/A | snv | 0.78 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 19 | 49182889 | stop gained | G/A | snv | 1.5E-03 | 1.6E-03 | 0.700 | 0 |