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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 3 | 131073 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 3 | 123429 | intron variant | A/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 10 | 101216904 | intergenic variant | -/T | delins | 6.6E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 16 | 30089130 | missense variant | G/A | snv | 2.2E-04 | 1.0E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 10 | 56359144 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 10 | 101214352 | TF binding site variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.776 | 0.280 | 5 | 1411242 | splice donor variant | C/T | snv | 6.4E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 3 | 136842 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 10 | 101236039 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.200 | 10 | 101237824 | intron variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 10 | 101216249 | intergenic variant | C/G | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 3 | 130837 | non coding transcript exon variant | A/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 10 | 101216904 | intergenic variant | C/T | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.851 | 0.120 | 2 | 240785063 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 3 | 125415 | intron variant | G/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 3 | 124824 | intron variant | G/A;C | snv | 0.35 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
34 | 0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
60 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.040 | 16 | 3728803 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 44911317 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.120 | 12 | 47984112 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
13 | 0.763 | 0.200 | 7 | 41964641 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
34 | 0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv | 0.700 | 0 |