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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 19 | 7122662 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 19 | 7120739 | missense variant | C/T | snv | 0.700 | 0 | ||||||||||
|
15 | 0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 19 | 7120678 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 13 | 75299364 | missense variant | C/A;T | snv | 3.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||||
|
43 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 5 | 77996116 | downstream gene variant | G/A | snv | 4.2E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 12 | 120442631 | intron variant | C/T | snv | 4.5E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 21 | 45704264 | intron variant | G/A | snv | 0.18 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 15 | 26043247 | intron variant | T/C | snv | 4.5E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 9 | 84494571 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 84519729 | intron variant | A/G | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 130949624 | intergenic variant | C/T | snv | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 7654805 | intergenic variant | G/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 84558757 | intron variant | C/T | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 84493940 | intron variant | C/T | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 84494136 | intron variant | T/C | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 84491947 | intron variant | G/C | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 165334552 | intron variant | T/A | snv | 0.35 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 84557432 | intron variant | G/A | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 84560886 | intron variant | A/G | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 84568293 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 84497421 | intron variant | A/G | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 84560801 | intron variant | T/C | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |