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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 13 | 20189547 | missense variant | C/A;T | snv | 9.2E-05; 7.2E-05 | 0.700 | 1.000 | 12 | 2000 | 2015 | ||||
|
3 | 0.925 | 0.120 | 13 | 20189487 | missense variant | C/A;T | snv | 3.2E-05; 4.0E-06 | 0.700 | 1.000 | 11 | 2001 | 2015 | ||||
|
4 | 0.925 | 0.120 | 13 | 20189217 | missense variant | T/A;G | snv | 6.0E-05 | 0.700 | 1.000 | 10 | 2002 | 2016 | ||||
|
11 | 0.763 | 0.280 | 13 | 20189166 | missense variant | C/T | snv | 2.9E-04 | 4.6E-04 | 0.700 | 1.000 | 10 | 2001 | 2014 | |||
|
1 | 1.000 | 0.120 | 13 | 20188993 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 7 | 1998 | 2009 | ||||
|
14 | 0.732 | 0.280 | 13 | 20189547 | frameshift variant | C/-;CC | delins | 6.4E-03 | 0.700 | 1.000 | 7 | 1997 | 2007 | ||||
|
2 | 0.925 | 0.120 | 13 | 20188984 | stop gained | C/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 6 | 2009 | 2014 | ||||
|
13 | 0.742 | 0.280 | 13 | 20189548 | missense variant | C/A;G | snv | 5.1E-04 | 0.700 | 1.000 | 5 | 2004 | 2015 | ||||
|
3 | 0.925 | 0.120 | 13 | 20189523 | missense variant | A/G | snv | 0.700 | 1.000 | 5 | 2001 | 2014 | |||||
|
2 | 0.925 | 0.120 | 13 | 20189193 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2003 | 2013 | ||||
|
6 | 0.827 | 0.120 | 13 | 20189332 | missense variant | C/A;G;T | snv | 1.6E-05; 3.6E-05; 4.0E-06 | 0.700 | 1.000 | 4 | 2007 | 2014 | ||||
|
3 | 0.925 | 0.120 | 13 | 20188932 | frameshift variant | TCTA/- | delins | 4.8E-05 | 2.1E-05 | 0.700 | 1.000 | 3 | 2000 | 2014 | |||
|
5 | 0.851 | 0.120 | 13 | 20189143 | missense variant | C/T | snv | 1.2E-05 | 4.2E-05 | 0.700 | 1.000 | 3 | 2004 | 2010 | |||
|
6 | 0.851 | 0.120 | 13 | 20189347 | frameshift variant | G/- | delins | 4.7E-04; 4.0E-06 | 2.1E-04 | 0.700 | 1.000 | 3 | 1999 | 2003 | |||
|
2 | 0.925 | 0.120 | 13 | 20189344 | stop gained | G/A | snv | 8.0E-06 | 6.3E-05 | 0.700 | 1.000 | 2 | 2006 | 2007 | |||
|
2 | 0.925 | 0.120 | 13 | 20189580 | start lost | A/C;G | snv | 4.0E-06 | 2.8E-05 | 0.700 | 1.000 | 2 | 2002 | 2011 | |||
|
2 | 0.925 | 0.120 | 13 | 20189514 | frameshift variant | ATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC/- | del | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 2005 | 2011 | |||
|
2 | 0.925 | 0.120 | 13 | 20189006 | frameshift variant | TG/- | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
9 | 0.776 | 0.200 | 13 | 20189358 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.120 | 13 | 20189017 | frameshift variant | CT/- | delins | 4.9E-05 | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||
|
10 | 0.776 | 0.280 | 13 | 20189415 | frameshift variant | A/- | del | 8.9E-04 | 5.8E-04 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
28 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 13 | 20189353 | missense variant | A/G | snv | 4.0E-05 | 1.1E-04 | 0.700 | 0 | ||||||
|
10 | 0.776 | 0.280 | 13 | 20189443 | stop gained | C/A;T | snv | 1.3E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.776 | 0.240 | 13 | 20189448 | frameshift variant | C/- | delins | 0.700 | 0 |