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 | 0.160 | 14 | 74493217 | stop gained | C/A;T | snv | 7.7E-05; 2.4E-05 | 0.700 | 1.000 | 6 | 2000 | 2014 | ||||
|
2 | 0.925 | 0.160 | 14 | 74484579 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 14 | 74486404 | missense variant | C/T | snv | 1.7E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 14 | 74486386 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.280 | 14 | 74486378 | stop gained | G/T | snv | 8.4E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 14 | 74484483 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 14 | 74484426 | stop gained | C/A;T | snv | 8.0E-06; 6.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 14 | 74493248 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 14 | 74486324 | splice region variant | C/T | snv | 4.3E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.160 | 18 | 23538609 | missense variant | C/A;G;T | snv | 4.8E-05; 2.0E-05; 4.8E-05; 1.6E-05 | 0.720 | 1.000 | 7 | 2001 | 2019 | ||||
|
2 | 0.925 | 0.160 | 18 | 23556358 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
9 | 0.851 | 0.320 | 18 | 23536736 | missense variant | A/G | snv | 2.0E-04 | 2.4E-04 | 0.740 | 1.000 | 6 | 1999 | 2019 | |||
|
2 | 0.925 | 0.160 | 18 | 23536811 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 0.700 | 1.000 | 5 | 1997 | 2016 | |||
|
2 | 0.925 | 0.160 | 18 | 23551653 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 5 | 2003 | 2013 | |||
|
2 | 0.925 | 0.160 | 18 | 23538610 | frameshift variant | CT/- | del | 7.0E-06 | 0.700 | 1.000 | 4 | 1999 | 2016 | ||||
|
8 | 0.827 | 0.280 | 18 | 23538564 | missense variant | G/C | snv | 1.2E-04 | 2.1E-04 | 0.710 | 1.000 | 4 | 1999 | 2019 | |||
|
1 | 1.000 | 0.160 | 18 | 23545088 | stop gained | G/A;T | snv | 2.0E-05 | 0.700 | 1.000 | 3 | 2002 | 2012 | ||||
|
2 | 0.925 | 0.160 | 18 | 23533495 | missense variant | G/C;T | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2000 | 2014 | ||||
|
2 | 0.925 | 0.160 | 18 | 23568933 | frameshift variant | CT/- | delins | 8.0E-06 | 0.700 | 1.000 | 3 | 1999 | 2013 | ||||
|
2 | 0.925 | 0.160 | 18 | 23539447 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2016 | |||
|
2 | 0.925 | 0.160 | 18 | 23539985 | missense variant | T/A | snv | 4.8E-05 | 1.1E-04 | 0.700 | 1.000 | 2 | 2001 | 2013 | |||
|
2 | 0.925 | 0.160 | 18 | 23533364 | frameshift variant | GAGT/- | delins | 3.2E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 1999 | 2010 | |||
|
1 | 1.000 | 0.160 | 18 | 23556527 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.280 | 18 | 23538651 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.280 | 18 | 23534476 | synonymous variant | C/A;T | snv | 2.6E-03; 1.3E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 |