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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
181 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.900 | 0.966 | 21 | 2005 | 2019 | ||||
|
2 | 0.925 | 0.080 | 9 | 5073742 | missense variant | G/C | snv | 0.810 | 1.000 | 1 | 2006 | 2019 | |||||
|
9 | 0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 | 0.800 | 1.000 | 12 | 2010 | 2019 | ||||
|
15 | 0.708 | 0.320 | 15 | 90088702 | missense variant | C/A;T | snv | 3.2E-05 | 0.780 | 1.000 | 8 | 2010 | 2019 | ||||
|
83 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.760 | 0.923 | 6 | 2009 | 2019 | ||||
|
9 | 0.763 | 0.240 | 4 | 54733174 | missense variant | T/A;G | snv | 0.750 | 1.000 | 5 | 2006 | 2013 | |||||
|
42 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.740 | 1.000 | 4 | 1987 | 2017 | ||||
|
5 | 0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv | 0.740 | 1.000 | 4 | 2001 | 2019 | |||||
|
40 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.740 | 1.000 | 4 | 2009 | 2016 | |||||
|
5 | 0.851 | 0.080 | 13 | 28028203 | missense variant | G/C;T | snv | 0.720 | 1.000 | 2 | 2013 | 2016 | |||||
|
18 | 0.689 | 0.200 | 15 | 90088606 | missense variant | C/A;T | snv | 0.720 | 1.000 | 2 | 2010 | 2016 | |||||
|
3 | 0.882 | 0.080 | 3 | 128481901 | missense variant | G/A | snv | 0.720 | 1.000 | 2 | 2011 | 2012 | |||||
|
42 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2014 | 2016 | |||||
|
1 | 1.000 | 0.040 | 13 | 28027222 | missense variant | A/C;T | snv | 0.710 | 1.000 | 1 | 2012 | 2019 | |||||
|
2 | 0.925 | 0.040 | 13 | 28028244 | missense variant | T/G | snv | 0.710 | 1.000 | 1 | 2006 | 2006 | |||||
|
20 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.710 | 1.000 | 1 | 2014 | 2019 | ||||
|
38 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.710 | 1.000 | 1 | 1987 | 2016 | |||||
|
21 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2010 | 2016 | ||||
|
1 | 0.925 | 0.120 | 13 | 28018500 | missense variant | G/C | snv | 0.710 | 1.000 | 1 | 2003 | 2014 | |||||
|
135 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 1987 | 2014 | ||||
|
6 | 0.763 | 0.280 | 15 | 90088703 | missense variant | G/A;C | snv | 0.710 | 1.000 | 1 | 2010 | 2016 | |||||
|
1 | 1.000 | 0.040 | 13 | 28018483 | missense variant | T/C | snv | 2.4E-05 | 1.4E-05 | 0.710 | 1.000 | 1 | 2005 | 2014 | |||
|
3 | 0.827 | 0.240 | 2 | 25234374 | missense variant | G/A;C;T | snv | 1.2E-04; 8.0E-06 | 0.710 | 1.000 | 1 | 2010 | 2016 | ||||
|
23 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.710 | 1.000 | 1 | 2012 | 2016 | |||||
|
15 | 0.732 | 0.240 | 11 | 32396399 | synonymous variant | T/C | snv | 0.24; 4.0E-06 | 0.17 | 0.100 | 1.000 | 13 | 2011 | 2018 |