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 | ||||||
|
22 | 0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 | 0.020 | < 0.001 | 2 | 2007 | 2012 | |||
|
1 | 1.000 | 0.080 | 10 | 3113045 | intron variant | A/G;T | snv | 0.020 | < 0.001 | 2 | 2007 | 2008 | |||||
|
6 | 0.827 | 0.240 | 14 | 79478819 | intron variant | A/G | snv | 0.25 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 19 | 9827538 | intron variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 17 | 43953163 | missense variant | G/C | snv | 0.63 | 0.59 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
6 | 1.000 | 0.080 | 11 | 47641497 | intron variant | A/G | snv | 0.28 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 16 | 67483152 | intron variant | G/A | snv | 2.4E-02 | 2.5E-02 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
9 | 0.925 | 0.120 | 16 | 53768582 | intron variant | C/T | snv | 0.31 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 232966240 | intron variant | G/A | snv | 0.19 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 3 | 186841636 | upstream gene variant | A/G | snv | 0.15 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 54167063 | intron variant | T/C | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 |