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 | 0.040 | 13 | 113040195 | intron variant | A/G | snv | 0.12 | 0.810 | 1.000 | 1 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.040 | 19 | 2177194 | intron variant | C/A;G;T | snv | 0.810 | 1.000 | 1 | 2012 | 2018 | |||||
|
1 | 1.000 | 0.040 | 7 | 107297975 | intron variant | A/C | snv | 0.20 | 0.810 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 7 | 107567250 | intron variant | A/G | snv | 0.12 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 20 | 47466905 | intergenic variant | G/A | snv | 5.0E-02 | 0.720 | 1.000 | 2 | 2014 | 2018 | ||||
|
1 | 0.882 | 0.040 | 12 | 27862037 | regulatory region variant | G/T | snv | 0.12 | 0.710 | 1.000 | 1 | 2012 | 2018 | ||||
|
1 | 0.882 | 0.040 | 22 | 41238083 | frameshift variant | -/GCCCGCGC | delins | 4.8E-03 | 1.2E-02 | 0.710 | 1.000 | 1 | 2017 | 2017 | |||
|
15 | 0.724 | 0.320 | 20 | 35438203 | 5 prime UTR variant | G/A | snv | 0.47 | 0.100 | 0.880 | 25 | 2007 | 2019 | ||||
|
13 | 0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 | 0.050 | 0.800 | 5 | 2005 | 2009 | ||||
|
3 | 0.882 | 0.040 | 15 | 67078107 | intron variant | G/A | snv | 0.45 | 0.040 | 1.000 | 4 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 10 | 126093840 | intron variant | C/A;T | snv | 0.040 | 0.750 | 4 | 2009 | 2017 | |||||
|
5 | 0.827 | 0.200 | 14 | 90397013 | intron variant | C/A;G;T | snv | 0.030 | 0.333 | 3 | 2008 | 2018 | |||||
|
230 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.030 | 1.000 | 3 | 2003 | 2018 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.030 | 1.000 | 3 | 2013 | 2018 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.030 | 1.000 | 3 | 2008 | 2014 | ||||
|
3 | 0.882 | 0.160 | 21 | 26930036 | missense variant | A/G | snv | 0.83 | 0.89 | 0.030 | 0.667 | 3 | 2008 | 2019 | |||
|
7 | 0.807 | 0.120 | 2 | 182838608 | missense variant | G/A | snv | 8.2E-02 | 8.3E-02 | 0.030 | 0.667 | 3 | 2005 | 2009 | |||
|
3 | 0.882 | 0.120 | 10 | 126330456 | missense variant | C/A;G | snv | 2.1E-03; 0.56 | 0.030 | 1.000 | 3 | 2009 | 2017 | ||||
|
3 | 0.882 | 0.080 | 3 | 15174922 | non coding transcript exon variant | C/T | snv | 0.22 | 0.18 | 0.030 | 0.667 | 3 | 2009 | 2016 | |||
|
4 | 0.851 | 0.200 | 16 | 53805223 | intron variant | T/A;C;G | snv | 0.030 | 0.667 | 3 | 2014 | 2018 | |||||
|
2 | 0.925 | 0.040 | 6 | 32405535 | non coding transcript exon variant | C/T | snv | 0.12 | 0.020 | 0.500 | 2 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.040 | 9 | 111040905 | upstream gene variant | C/T | snv | 0.18 | 0.020 | 0.500 | 2 | 2008 | 2009 | ||||
|
32 | 0.645 | 0.560 | 14 | 64257333 | synonymous variant | C/T | snv | 6.7E-02 | 6.3E-02 | 0.020 | 1.000 | 2 | 2012 | 2014 | |||
|
91 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.020 | 0.500 | 2 | 2018 | 2019 |