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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 7 | 100992117 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.040 | 1 | 101000498 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
12 | 0.742 | 0.280 | 12 | 10118488 | stop gained | A/C;G | snv | 6.2E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.120 | 4 | 101818823 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 2 | 102030838 | downstream gene variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 2 | 102046427 | intron variant | T/G | snv | 0.62 | 0.710 | 1.000 | 2 | 2015 | 2016 | ||||
|
2 | 0.925 | 0.080 | 2 | 102047167 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.827 | 0.120 | 2 | 102154822 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 2 | 102311181 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.120 | 2 | 102311266 | upstream gene variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.120 | 2 | 102358876 | intron variant | T/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
20 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
14 | 0.724 | 0.240 | 2 | 102464132 | intergenic variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 10 | 102472959 | 3 prime UTR variant | G/A | snv | 0.48 | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.020 | 1.000 | 2 | 2011 | 2014 | |||||
|
3 | 0.925 | 0.120 | 4 | 102501347 | 5 prime UTR variant | C/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.776 | 0.280 | 4 | 102513096 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
2 | 0.925 | 0.080 | 4 | 102589957 | intron variant | G/A | snv | 0.34 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 11 | 102834927 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.827 | 0.160 | 11 | 102838056 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
10 | 0.763 | 0.320 | 11 | 102844317 | upstream gene variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | 0.500 | 2 | 2001 | 2015 |