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 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
1 | 1.000 | 0.120 | 3 | 137083096 | intergenic variant | A/C | snv | 0.14 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.020 | 0.500 | 2 | 2011 | 2013 | |||
|
4 | 0.882 | 0.200 | 1 | 42935767 | intron variant | A/C | snv | 0.66 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
3 | 0.925 | 0.200 | 3 | 157429779 | intron variant | A/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.240 | 21 | 31666552 | intron variant | A/C | snv | 3.6E-02 | 3.4E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 3 | 4504140 | intron variant | A/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.790 | 0.360 | 6 | 160249250 | missense variant | A/C | snv | 0.90 | 0.89 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.851 | 0.160 | 16 | 72061751 | intron variant | A/C | snv | 2.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 3 | 142727363 | intron variant | A/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 6 | 89238513 | intergenic variant | A/C | snv | 0.37 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
15 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.120 | 14 | 59192073 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
19 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
18 | 0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.280 | 7 | 150992309 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.960 | 25 | 2000 | 2019 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 0.905 | 21 | 1996 | 2018 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.050 | 1.000 | 5 | 2006 | 2018 | |||
|
39 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.020 | 1.000 | 2 | 2007 | 2009 | |||
|
3 | 0.882 | 0.240 | 6 | 154626274 | intergenic variant | A/G | snv | 0.13 | 0.710 | 1.000 | 2 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.120 | 12 | 20452282 | intron variant | A/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2011 | 2011 |