| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.120 | 5 | 35857748 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.040 | 7 | 18935100 | intron variant | T/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.080 | 8 | 127014165 | intron variant | G/A;C | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 7 | 55170434 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.040 | 12 | 26120155 | 3 prime UTR variant | C/G | snv | 0.48 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.080 | 7 | 55200333 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.851 | 0.120 | 7 | 55181370 | missense variant | G/A;C | snv | 0.52; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.120 | 7 | 55174029 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.080 | 7 | 140781602 | missense variant | CC/AA;GA | mnv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
15 | 0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.776 | 0.240 | 3 | 179203761 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.200 | 3 | 188877884 | 3 prime UTR variant | G/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 25158555 | missense variant | G/A;T | snv | 2.8E-04; 0.33 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
18 | 0.701 | 0.440 | 12 | 62603400 | non coding transcript exon variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 26122622 | missense variant | G/A | snv | 0.53 | 0.38 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.080 | 11 | 72822491 | missense variant | C/T | snv | 7.0E-03 | 2.3E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
27 | 0.672 | 0.480 | 12 | 47908762 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 7 | 55142377 | synonymous variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
25 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.160 | 7 | 55174818 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 |