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 | 0.080 | 2 | 21012365 | stop gained | A/C;G | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 2 | 1993 | 2014 | ||||
|
1 | 1.000 | 0.040 | 2 | 21010033 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 21015169 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 21009263 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 21013287 | stop gained | G/C;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 21038086 | stop gained | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 21028484 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.776 | 0.120 | 2 | 21006289 | missense variant | G/A | snv | 1.7E-04 | 6.3E-05 | 0.700 | 1.000 | 14 | 1989 | 2017 | |||
|
22 | 0.689 | 0.280 | 2 | 21006288 | missense variant | C/A;T | snv | 2.8E-04 | 7.3E-04 | 0.700 | 1.000 | 11 | 1989 | 2013 | |||
|
4 | 0.851 | 0.120 | 2 | 21029900 | missense variant | G/A;T | snv | 8.0E-06; 2.0E-05 | 0.700 | 1.000 | 3 | 2003 | 2017 | ||||
|
2 | 0.925 | 0.080 | 2 | 21007749 | frameshift variant | AAAGA/- | delins | 4.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2012 | ||||
|
2 | 0.925 | 0.080 | 2 | 21010325 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 2 | 21019728 | frameshift variant | CCCGGTC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 21011751 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 21007345 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 21004676 | splice acceptor variant | C/G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 2 | 21028066 | splice acceptor variant | C/T | snv | 0.700 | 0 |