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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
1 | 1.000 | 0.120 | 13 | 20189418 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 20189410 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 20189455 | inframe deletion | CCT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 13 | 20189095 | missense variant | T/C;G | snv | 1.4E-04 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 13 | 20188977 | missense variant | C/A | snv | 0.800 | 1.000 | 7 | 1998 | 2009 | |||||
|
2 | 0.925 | 0.200 | 13 | 20189047 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 7 | 1998 | 2009 | ||||
|
2 | 0.925 | 0.120 | 13 | 20188984 | stop gained | C/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 6 | 2009 | 2014 | ||||
|
2 | 0.925 | 0.120 | 13 | 20189193 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2003 | 2013 | ||||
|
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 | |||||
|
2 | 0.925 | 0.120 | 13 | 20189017 | frameshift variant | CT/- | delins | 4.9E-05 | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.120 | 13 | 20189068 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 13 | 20189446 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
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 | ||||
|
3 | 0.925 | 0.120 | 13 | 20189450 | stop gained | C/G;T | snv | 2.8E-05 | 0.800 | 1.000 | 7 | 1998 | 2009 | ||||
|
3 | 0.925 | 0.120 | 13 | 20189523 | missense variant | A/G | snv | 0.700 | 1.000 | 5 | 2001 | 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 | |||
|
3 | 0.882 | 0.120 | 13 | 20189353 | missense variant | A/G | snv | 4.0E-05 | 1.1E-04 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.120 | 13 | 20189154 | missense variant | C/T | snv | 0.800 | 1.000 | 18 | 1998 | 2015 | |||||
|
4 | 0.925 | 0.120 | 13 | 20189217 | missense variant | T/A;G | snv | 6.0E-05 | 0.700 | 1.000 | 10 | 2002 | 2016 | ||||
|
5 | 0.882 | 0.200 | 13 | 20189359 | missense variant | G/A;C | snv | 0.800 | 1.000 | 9 | 1998 | 2009 |