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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.120 | 11 | 47348424 | missense variant | C/T | snv | 1.7E-05 | 4.2E-05 | 0.720 | 1.000 | 33 | 1998 | 2017 | |||
|
4 | 0.851 | 0.080 | 11 | 47342718 | missense variant | C/T | snv | 2.4E-05 | 4.2E-05 | 0.700 | 1.000 | 22 | 1998 | 2017 | |||
|
3 | 0.925 | 0.080 | 11 | 47342611 | missense variant | C/A;G;T | snv | 1.2E-05; 3.2E-05 | 0.700 | 1.000 | 20 | 2006 | 2017 | ||||
|
5 | 0.851 | 0.080 | 11 | 47342719 | missense variant | G/A;C;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 18 | 1998 | 2017 | ||||
|
7 | 0.790 | 0.120 | 11 | 47342578 | stop gained | C/A;G | snv | 1.3E-05 | 0.700 | 1.000 | 16 | 1997 | 2017 | ||||
|
4 | 0.851 | 0.080 | 11 | 47339792 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 12 | 1995 | 2014 | |||||
|
4 | 0.851 | 0.080 | 11 | 47337729 | frameshift variant | -/C | delins | 2.1E-05 | 0.700 | 1.000 | 11 | 1998 | 2015 | ||||
|
3 | 0.882 | 0.080 | 11 | 47333682 | missense variant | C/G;T | snv | 2.4E-05; 4.1E-06 | 0.700 | 1.000 | 11 | 2005 | 2017 | ||||
|
3 | 0.882 | 0.080 | 11 | 47351507 | splice acceptor variant | T/C | snv | 2.7E-05 | 2.1E-05 | 0.700 | 1.000 | 10 | 2004 | 2016 | |||
|
4 | 0.851 | 0.120 | 11 | 47335120 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 10 | 2003 | 2015 | |||
|
4 | 0.851 | 0.080 | 11 | 47337534 | missense variant | C/G;T | snv | 2.0E-05 | 0.700 | 1.000 | 9 | 2003 | 2016 | ||||
|
2 | 1.000 | 0.040 | 11 | 47339376 | frameshift variant | G/- | delins | 0.700 | 1.000 | 9 | 1998 | 2017 | |||||
|
4 | 0.851 | 0.080 | 11 | 47335082 | frameshift variant | AG/- | del | 7.0E-06 | 0.700 | 1.000 | 9 | 1998 | 2014 | ||||
|
3 | 0.882 | 0.080 | 11 | 47332126 | inframe insertion | -/CAGACATAGATGCCCCCG | delins | 2.8E-05 | 0.700 | 1.000 | 8 | 1995 | 2014 | ||||
|
3 | 0.882 | 0.080 | 11 | 47332275 | intron variant | AGGGAAGCCATCCAGGCTGAGAGGG/- | delins | 4.0E-03 | 8.9E-04 | 0.700 | 1.000 | 8 | 2003 | 2015 | |||
|
5 | 0.827 | 0.080 | 11 | 47342698 | missense variant | G/A | snv | 4.0E-05 | 9.8E-05 | 0.720 | 1.000 | 8 | 2003 | 2018 | |||
|
2 | 0.925 | 0.080 | 11 | 47335041 | splice donor variant | C/G;T | snv | 0.700 | 1.000 | 8 | 1997 | 2017 | |||||
|
2 | 0.925 | 0.080 | 11 | 47332813 | splice donor variant | C/A;G;T | snv | 0.700 | 1.000 | 8 | 1997 | 2017 | |||||
|
5 | 0.851 | 0.080 | 11 | 47338520 | missense variant | C/G;T | snv | 1.6E-05 | 0.700 | 1.000 | 7 | 2004 | 2017 | ||||
|
3 | 0.882 | 0.080 | 11 | 47348486 | missense variant | T/G | snv | 0.700 | 1.000 | 7 | 2003 | 2017 | |||||
|
2 | 0.925 | 0.080 | 11 | 47347856 | splice donor variant | C/G;T | snv | 2.9E-05 | 0.700 | 1.000 | 7 | 1997 | 2004 | ||||
|
1 | 1.000 | 0.040 | 11 | 47337420 | missense variant | C/T | snv | 4.1E-06 | 1.4E-05 | 0.700 | 1.000 | 7 | 2008 | 2017 | |||
|
2 | 0.925 | 0.080 | 11 | 47333556 | splice donor variant | C/G;T | snv | 4.2E-06 | 0.700 | 1.000 | 6 | 2010 | 2017 | ||||
|
3 | 0.882 | 0.080 | 11 | 47338519 | splice donor variant | C/A;G;T | snv | 0.700 | 1.000 | 6 | 1997 | 2017 | |||||
|
3 | 0.882 | 0.080 | 11 | 47342697 | missense variant | C/A;T | snv | 0.700 | 1.000 | 6 | 1998 | 2012 |