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 | 0.080 | 19 | 35831763 | splice acceptor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 35851260 | splice donor variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 19 | 35835755 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 35848147 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 35848112 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 35851557 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 35845681 | frameshift variant | T/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 19 | 35844419 | frameshift variant | G/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 19 | 35850377 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 35848795 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.160 | 19 | 35844109 | missense variant | C/T | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 35849107 | missense variant | G/A | snv | 7.7E-03 | 8.5E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 19 | 35842480 | missense variant | C/G;T | snv | 6.8E-05 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.080 | 19 | 35839554 | missense variant | C/G;T | snv | 1.1E-03; 8.0E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 19 | 35842487 | missense variant | G/A | snv | 2.3E-03 | 1.5E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 19 | 35842244 | frameshift variant | TTAG/- | delins | 7.0E-06 | 0.700 | 1.000 | 2 | 2009 | 2016 | ||||
|
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 | 35839418 | missense variant | C/A | snv | 4.4E-05 | 4.2E-05 | 0.800 | 1.000 | 21 | 1998 | 2016 | |||
|
1 | 1.000 | 0.080 | 19 | 35850407 | stop gained | C/A;T | snv | 7.2E-05 | 0.800 | 1.000 | 16 | 1998 | 2016 | ||||
|
1 | 1.000 | 0.080 | 19 | 35852305 | intron variant | TCTCTCTCTCTC/-;TCTC;TCTCTC;TCTCTCTC;TCTCTCTCTC;TCTCTCTCTCTCTC;TCTCTCTCTCTCTCTC;TCTCTCTCTCTCTCTCTC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 35842406 | stop gained | G/A;T | snv | 2.0E-05 | 0.700 | 1.000 | 6 | 2004 | 2014 | ||||
|
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 | 35848334 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 5.2E-05 | 0.800 | 1.000 | 16 | 1998 | 2016 | ||||
|
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 | 35831116 | missense variant | G/A;T | snv | 1.0E-04; 9.8E-04 | 0.800 | 1.000 | 15 | 1998 | 2016 |