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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 19 | 35826505 | stop lost | GGGCTCTTACACCAGA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 35826621 | frameshift variant | C/- | del | 4.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2011 | ||||
|
1 | 1.000 | 0.080 | 19 | 35826627 | frameshift variant | A/- | del | 0.700 | 1.000 | 2 | 2008 | 2011 | |||||
|
1 | 1.000 | 0.080 | 19 | 35826647 | splice acceptor variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 19 | 35830843 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 35830883 | frameshift variant | -/G | delins | 0.700 | 1.000 | 3 | 2001 | 2011 | |||||
|
1 | 1.000 | 0.080 | 19 | 35830889 | stop gained | -/T | delins | 2.0E-05; 5.2E-05 | 4.2E-05 | 0.700 | 1.000 | 3 | 2001 | 2011 | |||
|
1 | 1.000 | 0.080 | 19 | 35830889 | stop gained | G/A;T | snv | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.080 | 19 | 35830956 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 19 | 35831056 | stop gained | G/A | snv | 9.9E-05 | 0.700 | 1.000 | 7 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.080 | 19 | 35831092 | stop gained | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 6 | 2001 | 2017 | |||
|
1 | 1.000 | 0.080 | 19 | 35831116 | missense variant | G/A;T | snv | 1.0E-04; 9.8E-04 | 0.800 | 1.000 | 15 | 1998 | 2016 | ||||
|
1 | 1.000 | 0.080 | 19 | 35831147 | splice acceptor variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 19 | 35831148 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 35831325 | frameshift variant | -/CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 35831358 | stop gained | G/A | snv | 1.6E-04 | 2.1E-05 | 0.700 | 1.000 | 6 | 1998 | 2010 | |||
|
1 | 1.000 | 0.080 | 19 | 35831372 | splice acceptor variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||
|
1 | 1.000 | 0.080 | 19 | 35831502 | splice acceptor variant | T/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 19 | 35831679 | frameshift variant | C/-;CC | delins | 3.5E-05 | 0.700 | 1.000 | 4 | 1999 | 2010 | ||||
|
1 | 1.000 | 0.080 | 19 | 35831763 | splice acceptor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 35835755 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 35839284 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 19 | 35839287 | missense variant | C/A | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 19 | 35839299 | missense variant | C/G;T | snv | 4.0E-06; 2.6E-04 | 0.700 | 1.000 | 15 | 1998 | 2016 |