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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.240 | 11 | 118001371 | 3 prime UTR variant | G/A;T | snv | 0.51 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
18 | 0.701 | 0.440 | 12 | 62603400 | non coding transcript exon variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 12 | 54196315 | intergenic variant | C/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 12 | 54196349 | intergenic variant | G/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.120 | 12 | 109109255 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.120 | 12 | 109100430 | intron variant | A/G | snv | 1.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
24 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 12 | 54197920 | intergenic variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 16 | 27358288 | intron variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
12 | 0.752 | 0.240 | 17 | 39895095 | regulatory region variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
8 | 0.790 | 0.400 | 18 | 69863203 | 3 prime UTR variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 19 | 40729215 | synonymous variant | A/G | snv | 7.2E-02 | 9.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.200 | 19 | 40718299 | intron variant | G/A;C | snv | 6.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.020 | 1.000 | 2 | 2011 | 2018 | |||
|
2 | 0.925 | 0.200 | 22 | 36937894 | missense variant | C/T | snv | 2.6E-02 | 4.7E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 |