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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.160 | 2 | 100190478 | intron variant | T/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 7 | 100698285 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 0.807 | 0.280 | 4 | 101829765 | intron variant | T/C | snv | 0.25 | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
11 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.742 | 0.320 | 4 | 101918130 | missense variant | G/A | snv | 0.31 | 0.30 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
20 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 0.710 | 1.000 | 2 | 2011 | 2013 | |||||
|
14 | 0.724 | 0.240 | 2 | 102464132 | intergenic variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
4 | 0.925 | 0.160 | 5 | 103261019 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 5 | 103342219 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.882 | 12 | 103493699 | intron variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
25 | 0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 | 0.750 | 0.833 | 6 | 2013 | 2019 | |||
|
9 | 0.790 | 0.160 | 19 | 10354167 | missense variant | G/A | snv | 4.6E-03 | 4.9E-03 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
1 | 19 | 10359243 | missense variant | G/A;C | snv | 7.2E-03; 4.1E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
12 | 0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 0.724 | 0.240 | 19 | 10476920 | intergenic variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 14 | 105647030 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.120 | 3 | 105681480 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.120 | 3 | 105681740 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.080 | 3 | 105720182 | synonymous variant | G/A | snv | 0.22 | 0.21 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.925 | 0.160 | 3 | 105867870 | intron variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
11 | 0.763 | 0.360 | 6 | 106120159 | intron variant | C/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 3 | 106229671 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
14 | 0.724 | 0.240 | 13 | 106410694 | intergenic variant | T/C | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 |