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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.882 | 0.160 | 11 | 22255403 | stop gained | C/T | snv | 1.6E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 11 | 22226034 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 78042645 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
5 | 0.925 | 0.120 | 6 | 105124593 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.882 | 0.120 | 15 | 42399617 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.120 | 15 | 42410958 | missense variant | G/C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.851 | 0.120 | 15 | 42409930 | splice acceptor variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
21 | 0.827 | 0.120 | 15 | 42387803 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | 3 | 8745725 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 1.000 | 0.120 | 21 | 46114006 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 31209642 | missense variant | T/C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | X | 31875197 | frameshift variant | -/AATG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 32823294 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 32518006 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.120 | X | 31496876 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 4 | 3473504 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 4 | 3493047 | missense variant | C/T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.120 | 2 | 71513892 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 71570335 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 2 | 71551635 | missense variant | T/C | snv | 2.9E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 71511847 | missense variant | G/A | snv | 7.1E-03 | 4.1E-03 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.120 | 2 | 71656236 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 19 | 46756837 | missense variant | A/G | snv | 1.2E-04 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 7 | 128858475 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |