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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 0.030 | 1.000 | 3 | 2011 | 2013 | ||||
|
21 | 0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.160 | 5 | 112837749 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.160 | 5 | 112837812 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.160 | 5 | 112838286 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 2005 | 2017 | |||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.020 | 1.000 | 2 | 2005 | 2017 | |||
|
18 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2007 | 2014 | |||
|
8 | 0.790 | 0.360 | 5 | 1266195 | intron variant | A/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.957 | 23 | 2004 | 2019 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 0.957 | 23 | 2004 | 2019 | ||||
|
4 | 0.851 | 0.160 | 10 | 17833714 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
32 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.925 | 0.160 | 3 | 36958902 | TF binding site variant | G/A | snv | 9.8E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.160 | 3 | 36993506 | 5 prime UTR variant | C/G;T | snv | 4.4E-05 | 0.700 | 1.000 | 2 | 2003 | 2005 | ||||
|
2 | 0.925 | 0.160 | 3 | 36993549 | start lost | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 3 | 36993550 | start lost | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 36993552 | stop gained | C/A;T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 3 | 36993556 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 36993559 | frameshift variant | AGGGGTTATTCGGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 36993563 | frameshift variant | GGTTATTCGGCGGCTGG/- | delins | 0.700 | 0 |