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 | 0.080 | 18 | 60372169 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 18 | 60372319 | missense variant | T/C | snv | 6.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 18 | 60372189 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 18 | 60371454 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.752 | 0.280 | 12 | 76347713 | frameshift variant | -/A | delins | 6.0E-04 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.200 | 12 | 122517404 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 18 | 60371512 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.200 | 5 | 150375721 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 18 | 60372286 | stop gained | GT/- | delins | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 18 | 60371601 | missense variant | A/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
12 | 0.807 | 0.400 | 13 | 32339288 | frameshift variant | GAAA/- | delins | 0.700 | 0 | ||||||||
|
11 | 0.882 | 0.200 | 22 | 36292059 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.240 | X | 24076757 | frameshift variant | TCAA/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 18 | 60371854 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 18 | 60371970 | missense variant | G/A | snv | 1.7E-04 | 7.7E-05 | 0.810 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 18 | 60371593 | missense variant | C/T | snv | 5.6E-05 | 1.3E-04 | 0.810 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 1.000 | 0.080 | 2 | 24927427 | intergenic variant | A/G | snv | 0.57 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.120 | 2 | 646364 | intergenic variant | T/A | snv | 0.82 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 12 | 442384 | 3 prime UTR variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 12 | 49832684 | intron variant | G/A | snv | 0.41 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 7 | 104863366 | intron variant | G/A | snv | 0.12 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 11 | 8640969 | missense variant | T/C | snv | 0.60 | 0.59 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 21 | 21317024 | intron variant | G/A | snv | 4.5E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 12 | 97507492 | intron variant | C/A | snv | 0.12 | 0.800 | 1.000 | 1 | 2013 | 2013 |