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 | 0.080 | 2 | 238276865 | intron variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
32 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.060 | 1.000 | 6 | 2013 | 2018 | ||||
|
2 | 0.925 | 0.080 | 4 | 55453183 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 4 | 46080161 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 99341085 | intron variant | C/T | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.882 | 0.080 | 4 | 99307860 | missense variant | G/A | snv | 1.5E-02 | 5.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.080 | 4 | 46270789 | intron variant | G/A | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 4 | 55452605 | 3 prime UTR variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.851 | 0.080 | 4 | 46312576 | synonymous variant | T/C | snv | 0.40 | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.882 | 0.080 | 4 | 46303716 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.160 | 4 | 89747463 | intron variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.776 | 0.240 | 4 | 89716450 | intron variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 4 | 46389047 | 5 prime UTR variant | T/C | snv | 5.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 4 | 46196917 | intergenic variant | G/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
20 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 5 | 148645656 | non coding transcript exon variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 5 | 148541962 | intron variant | T/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.080 | 5 | 76954762 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.827 | 0.160 | 5 | 175443147 | 5 prime UTR variant | C/T | snv | 0.68 | 0.72 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.080 | 5 | 1431049 | intron variant | G/C | snv | 0.31 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.080 | 5 | 1443084 | missense variant | G/A;C | snv | 5.6E-02; 6.8E-05 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.070 | 0.857 | 7 | 2010 | 2018 |