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 | 0.732 | 0.440 | 17 | 39913696 | intron variant | C/T | snv | 0.60 | 0.900 | 0.889 | 1 | 2007 | 2018 | ||||
|
4 | 0.763 | 0.280 | 17 | 39905943 | missense variant | G/A | snv | 0.40 | 0.35 | 0.860 | 0.900 | 1 | 2008 | 2018 | |||
|
8 | 0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 | 0.840 | 0.929 | 9 | 2010 | 2019 | ||||
|
3 | 0.882 | 0.160 | 5 | 132660151 | intron variant | T/A;C | snv | 0.68 | 0.840 | 1.000 | 1 | 2010 | 2018 | ||||
|
2 | 0.790 | 0.360 | 9 | 6190076 | intergenic variant | A/C | snv | 0.21 | 0.840 | 1.000 | 1 | 2010 | 2020 | ||||
|
4 | 0.925 | 0.080 | 15 | 60777789 | intron variant | C/T | snv | 0.23 | 0.820 | 1.000 | 3 | 2010 | 2019 | ||||
|
1 | 0.925 | 0.080 | 17 | 39908152 | intron variant | C/T | snv | 0.40 | 0.35 | 0.820 | 1.000 | 2 | 2011 | 2018 | |||
|
1 | 1.000 | 0.080 | 5 | 132565533 | intron variant | A/G | snv | 0.33 | 0.820 | 1.000 | 2 | 2010 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 102337157 | 5 prime UTR variant | G/A;T | snv | 0.820 | 1.000 | 2 | 2011 | 2019 | |||||
|
10 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 0.820 | 0.667 | 2 | 2011 | 2018 | |||||
|
3 | 0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 | 0.820 | 1.000 | 1 | 2010 | 2016 | ||||
|
2 | 0.925 | 0.080 | 17 | 39972395 | intron variant | C/T | snv | 0.42 | 0.820 | 1.000 | 1 | 2010 | 2016 | ||||
|
2 | 0.925 | 0.120 | 17 | 39966427 | missense variant | G/A;C;T | snv | 4.1E-04; 4.2E-06; 0.52 | 0.820 | 0.750 | 1 | 2011 | 2015 | ||||
|
3 | 0.742 | 0.320 | 11 | 76590272 | upstream gene variant | C/T | snv | 0.35 | 0.820 | 0.750 | 1 | 2011 | 2018 | ||||
|
4 | 0.790 | 0.320 | 6 | 32636595 | intron variant | G/A | snv | 0.54 | 0.810 | 1.000 | 4 | 2012 | 2019 | ||||
|
3 | 0.882 | 0.080 | 9 | 6209697 | intergenic variant | A/G;T | snv | 0.810 | 1.000 | 3 | 2010 | 2019 | |||||
|
1 | 0.925 | 0.080 | 17 | 39766006 | synonymous variant | G/A | snv | 0.41 | 0.36 | 0.810 | 1.000 | 2 | 2010 | 2019 | |||
|
2 | 0.925 | 0.120 | 2 | 102350089 | intron variant | A/G | snv | 0.18 | 0.810 | 1.000 | 1 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 102338622 | intron variant | G/A | snv | 0.18 | 0.810 | 1.000 | 1 | 2011 | 2012 | ||||
|
7 | 0.790 | 0.160 | 22 | 37137994 | intron variant | G/A | snv | 0.43 | 0.810 | 1.000 | 1 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 197356778 | intron variant | T/A;G | snv | 0.810 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 0.851 | 0.280 | 6 | 32390736 | non coding transcript exon variant | G/A | snv | 0.72 | 0.810 | 1.000 | 1 | 2011 | 2020 | ||||
|
1 | 1.000 | 0.080 | 2 | 102369762 | intron variant | G/A;T | snv | 0.810 | 1.000 | 1 | 2010 | 2012 | |||||
|
3 | 0.882 | 0.120 | 17 | 39965740 | missense variant | G/A | snv | 0.46 | 0.41 | 0.810 | 1.000 | 1 | 2010 | 2014 | |||
|
1 | 0.925 | 0.160 | 6 | 32216568 | non coding transcript exon variant | T/C | snv | 0.21 | 0.810 | 1.000 | 1 | 2011 | 2011 |