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 | 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 | 5 | 77996116 | downstream gene variant | G/A | snv | 4.2E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 13 | 106384996 | downstream gene variant | G/C | snv | 2.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 120442631 | intron variant | C/T | snv | 4.5E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 18 | 39171334 | intergenic variant | C/T | snv | 0.75 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 8 | 71696834 | intron variant | G/A;T | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 130953235 | intergenic variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 2 | 146756888 | intergenic variant | A/G | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 18 | 39191160 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 6 | 15855197 | intergenic variant | G/T | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
43 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 10 | 127076415 | intron variant | C/T | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 93980567 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
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 | ||||||||||
|
1 | 19 | 7120678 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
|
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 | 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 | 9 | 84557432 | intron variant | G/A | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |