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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 4 | 1801930 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 0 | |||||||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.700 | 0 | |||||||
|
9 | 0.763 | 0.360 | 4 | 1799395 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
10 | 0.763 | 0.280 | 4 | 1804362 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
1 | 1.000 | 0.080 | 6 | 32977925 | stop gained | G/A;T | snv | 1.5E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 6 | 32978186 | missense variant | A/G | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
2 | 0.925 | 0.120 | 2 | 113062547 | stop gained | C/A;T | snv | 4.0E-06; 2.9E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | X | 154030690 | missense variant | C/T | snv | 3.5E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
13 | 0.732 | 0.240 | 4 | 1804426 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
12 | 0.742 | 0.360 | 17 | 7669671 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.080 | 10 | 121500901 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
2 | 0.925 | 0.120 | 5 | 151669740 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
2 | 0.925 | 0.080 | 7 | 50612776 | missense variant | T/C | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 144437643 | missense variant | G/A | snv | 8.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 4 | 1805638 | synonymous variant | C/A | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 1998 | 2004 | |||
|
30 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.750 | 1.000 | 5 | 1998 | 2020 | ||||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.800 | 1.000 | 6 | 1994 | 2002 | |||||
|
2 | 0.925 | 0.120 | 4 | 1804377 | missense variant | G/T | snv | 0.850 | 1.000 | 10 | 1994 | 2012 | |||||
|
21 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.900 | 0.981 | 53 | 1994 | 2020 |