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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 19 | 54875434 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.851 | 0.200 | 3 | 188885163 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 1 | 157677736 | 3 prime UTR variant | A/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.120 | 1 | 157677999 | 3 prime UTR variant | C/A | snv | 0.63 | 0.020 | 1.000 | 2 | 2019 | 2020 | ||||
|
5 | 0.851 | 0.120 | 22 | 36355056 | intron variant | C/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 1 | 192565977 | intron variant | C/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 12 | 95658750 | 3 prime UTR variant | C/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.200 | 6 | 29974166 | upstream gene variant | C/A;G;T | snv | 0.800 | 1.000 | 2 | 2011 | 2015 | |||||
|
11 | 0.763 | 0.360 | 9 | 136372044 | missense variant | C/A;T | snv | 4.0E-06; 0.41 | 0.710 | 1.000 | 2 | 2014 | 2017 | ||||
|
2 | 0.925 | 0.120 | 12 | 6386109 | synonymous variant | C/A;T | snv | 0.77; 2.0E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 33129837 | downstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||
|
7 | 0.851 | 0.240 | 12 | 102462924 | non coding transcript exon variant | C/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 19 | 57328138 | missense variant | C/G | snv | 5.8E-03 | 2.8E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 17 | 63477294 | missense variant | C/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 1.000 | 0.120 | 8 | 6840209 | intron variant | C/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.827 | 0.280 | 4 | 87982701 | synonymous variant | C/G;T | snv | 0.32 | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
48 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.807 | 0.200 | 3 | 188885218 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 14 | 51968341 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.851 | 0.240 | 1 | 157700967 | upstream gene variant | C/T | snv | 0.28 | 0.720 | 1.000 | 3 | 2015 | 2020 | ||||
|
7 | 0.827 | 0.280 | 6 | 32713854 | upstream gene variant | C/T | snv | 0.66 | 0.720 | 1.000 | 3 | 2014 | 2017 | ||||
|
5 | 0.827 | 0.280 | 22 | 30027471 | 3 prime UTR variant | C/T | snv | 0.40 | 0.800 | 1.000 | 2 | 2011 | 2015 |