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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.050 | 1.000 | 5 | 2012 | 2017 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.040 | 0.750 | 4 | 2012 | 2019 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.040 | 0.750 | 4 | 2012 | 2019 | ||||
|
9 | 0.776 | 0.200 | 8 | 32574851 | intron variant | G/C | snv | 0.54 | 0.830 | 1.000 | 3 | 2012 | 2015 | ||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.020 | 1.000 | 2 | 2012 | 2018 | |||
|
10 | 0.776 | 0.160 | 11 | 534242 | synonymous variant | A/G | snv | 0.32 | 0.34 | 0.020 | 1.000 | 2 | 2012 | 2013 | |||
|
11 | 0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv | 0.820 | 1.000 | 2 | 2012 | 2013 | |||||
|
8 | 0.776 | 0.280 | 17 | 6999441 | missense variant | A/G | snv | 0.60 | 0.62 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 0.776 | 0.160 | 3 | 179218439 | intron variant | T/G | snv | 7.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
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 | 2012 | 2012 | |||
|
24 | 0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.040 | 0.750 | 4 | 2013 | 2017 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 9 | 97846400 | intron variant | G/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.080 | 2 | 160367217 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 97855301 | 3 prime UTR variant | T/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.827 | 0.080 | 9 | 97787746 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 0.790 | 0.240 | 13 | 102862735 | missense variant | G/A;C | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 2 | 217406996 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 9 | 97826557 | intron variant | A/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 9 | 97887814 | intergenic variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.040 | 1.000 | 4 | 2014 | 2018 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 0.667 | 3 | 2014 | 2015 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.030 | 0.667 | 3 | 2014 | 2015 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.030 | 0.667 | 3 | 2014 | 2015 |