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 | 0.160 | 7 | 5992044 | missense variant | A/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.160 | 7 | 5992059 | splice acceptor variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2014 | 2017 | |||||
|
4 | 0.925 | 0.160 | 7 | 5995534 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 4 | 2008 | 2016 | ||||
|
1 | 1.000 | 0.160 | 7 | 5995564 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 7 | 5995573 | frameshift variant | CTGTCTGT/-;CTGT | delins | 0.700 | 1.000 | 2 | 2008 | 2013 | |||||
|
4 | 0.925 | 0.160 | 7 | 5995574 | frameshift variant | GT/- | delins | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.160 | 7 | 5995591 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 7 | 5995612 | missense variant | T/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.827 | 0.240 | 7 | 5995614 | stop gained | G/A;C | snv | 8.0E-06; 8.0E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 7 | 5997342 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 13 | 1999 | 2017 | ||||
|
7 | 0.851 | 0.320 | 7 | 5997388 | stop gained | AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 7 | 5997420 | stop gained | G/A | snv | 9.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 7 | 5999193 | missense variant | C/G;T | snv | 3.7E-04 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.200 | 7 | 5999199 | missense variant | T/G | snv | 8.0E-06 | 0.800 | 1.000 | 13 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 7 | 5999269 | missense variant | C/T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 10 | 1999 | 2013 | ||||
|
4 | 0.925 | 0.160 | 7 | 5999277 | splice acceptor variant | T/C | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.200 | 7 | 6002590 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 1998 | 2016 | |||
|
5 | 1.000 | 0.160 | 7 | 6003718 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 7 | 6003772 | frameshift variant | -/GA | delins | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.200 | 7 | 6003794 | splice acceptor variant | T/A;C;G | snv | 4.1E-06 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
2 | 1.000 | 0.160 | 7 | 6003981 | stop gained | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.160 | 7 | 6004059 | splice acceptor variant | C/G;T | snv | 4.0E-06; 8.1E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 | 0.800 | 1.000 | 15 | 2005 | 2017 | ||||
|
5 | 0.882 | 0.200 | 7 | 6009018 | start lost | A/C;G;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 3 | 2015 | 2016 | ||||
|
10 | 0.851 | 0.200 | 7 | 6009019 | start lost | T/A;C;G | snv | 4.0E-06; 2.8E-05 | 0.700 | 1.000 | 6 | 2008 | 2016 |