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 | 0.925 | 0.120 | 20 | 32807793 | missense variant | G/A;T | snv | 2.8E-05; 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.040 | 9 | 894044 | missense variant | A/G | snv | 2.7E-03 | 1.3E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 2 | 100975538 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 4 | 76108994 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 7 | 91638848 | non coding transcript exon variant | G/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 12 | 24032586 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 2459149 | intron variant | T/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 9 | 9945648 | intron variant | T/C | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 151775494 | missense variant | A/G;T | snv | 0.23 | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 3 | 160189298 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 4 | 103871299 | upstream gene variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 8 | 41560644 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 13 | 33718141 | regulatory region variant | T/C | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 5 | 16434781 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 3 | 39482000 | intron variant | C/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 12 | 24029914 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 14 | 44478460 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 9 | 98823549 | intron variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 3 | 24931301 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 8 | 69721156 | intron variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 7 | 122902383 | intergenic variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 5 | 150573187 | intergenic variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 4 | 186606664 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 5 | 143980913 | intergenic variant | T/A | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 1193180 | intergenic variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 |