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 | 18 | 72302261 | intergenic variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 122969896 | intergenic variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 83834281 | intergenic variant | G/A;T | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 5634585 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 13 | 64923076 | intergenic variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 19 | 30446936 | intron variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 132440647 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 6 | 150170920 | intron variant | T/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 45114350 | intron variant | T/C | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 150167075 | downstream gene variant | A/G | snv | 2.2E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 11 | 47447853 | missense variant | G/A | snv | 2.0E-05 | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 19 | 38505868 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
9 | X | 32849737 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
1 | 2 | 178571565 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 22270443 | splice donor variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | X | 32343174 | stop gained | A/C | snv | 0.700 | 0 | ||||||||||
|
3 | 1 | 155140104 | missense variant | A/T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 178671132 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 21 | 46131981 | missense variant | G/A | snv | 5.9E-05 | 4.2E-05 | 0.700 | 0 | ||||||||
|
3 | 15 | 42387891 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | MT | 15990 | non coding transcript exon variant | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | MT | 4365 | non coding transcript exon variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 19 | 38463499 | missense variant | G/A;T | snv | 1.7E-04; 8.0E-06 | 0.700 | 0 | |||||||||
|
3 | 12 | 101642495 | missense variant | G/A;C | snv | 3.2E-05 | 0.700 | 0 | |||||||||
|
1 | 2 | 178706629 | stop gained | G/A | snv | 2.8E-05 | 2.1E-05 | 0.700 | 0 |