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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.800 | 1.000 | 2 | 2011 | 2012 | |||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
46 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.827 | 0.200 | 1 | 2595307 | missense variant | A/G | snv | 0.41 | 0.46 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
9 | 0.807 | 0.240 | 22 | 21628603 | missense variant | C/T | snv | 0.27 | 0.18 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 7 | 95434956 | missense variant | C/T | snv | 1.2E-02 | 1.4E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
1 | 19 | 49660781 | frameshift variant | G/- | delins | 4.1E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 2 | 136115275 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||||
|
2 | 5 | 56264200 | upstream gene variant | T/G | snv | 0.34 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 18 | 12747013 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
13 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.120 | 5 | 134194449 | 3 prime UTR variant | A/G | snv | 9.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1 | 2593476 | intron variant | G/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
6 | 0.851 | 0.280 | 6 | 90216893 | intron variant | C/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.120 | 11 | 118709156 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.120 | 11 | 118741072 | intron variant | G/A;T | snv | 0.25 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 11 | 118771376 | intron variant | A/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
5 | 0.882 | 0.200 | 1 | 24977085 | intergenic variant | A/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 2 | 203764087 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 11 | 11114248 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
9 | 0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
13 | 0.763 | 0.280 | 11 | 128511079 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
10 | 0.827 | 0.200 | 2 | 241851760 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.925 | 0.160 | 1 | 116720516 | regulatory region variant | C/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 |