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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.925 | 0.200 | 16 | 16165784 | inframe deletion | AAG/- | delins | 1.2E-05 | 0.700 | 0 | |||||||
|
9 | 0.790 | 0.240 | 9 | 133639992 | splice region variant | A/G | snv | 0.45 | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.925 | 0.200 | 16 | 16187213 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.200 | 16 | 16212248 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
6 | 1.000 | 0.160 | 16 | 16219948 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.200 | 16 | 16182486 | frameshift variant | TCTC/- | delins | 0.700 | 0 | ||||||||
|
6 | 1.000 | 0.160 | 16 | 16188897 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
9 | 1.000 | 0.160 | 16 | 16221763 | frameshift variant | T/- | del | 4.1E-06 | 0.700 | 0 | |||||||
|
7 | 0.925 | 0.200 | 16 | 16182875 | frameshift variant | C/-;CC | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.882 | 0.200 | 16 | 16157770 | frameshift variant | A/- | del | 8.4E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
6 | 0.925 | 0.200 | 16 | 16150646 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.925 | 0.200 | 16 | 16203407 | splice donor variant | AC/- | delins | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
12 | 0.827 | 0.240 | 16 | 16173283 | splice donor variant | C/A | snv | 8.0E-06; 1.2E-04 | 1.7E-04 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.120 | 4 | 55125564 | 5 prime UTR variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
6 | 1.000 | 0.160 | 16 | 16155041 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 19 | 11113615 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 18 | 22200698 | missense variant | C/G | snv | 2.5E-04 | 1.7E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 8 | 11756964 | missense variant | G/A | snv | 2.4E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
17 | 0.742 | 0.400 | 13 | 46073959 | missense variant | C/T | snv | 0.31 | 0.35 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 1.000 | 0.080 | 19 | 11113738 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.925 | 0.200 | 16 | 16177554 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.200 | 16 | 16219935 | missense variant | C/T | snv | 3.0E-04 | 0.700 | 0 | |||||||
|
13 | 0.851 | 0.320 | 16 | 16154899 | missense variant | G/A;T | snv | 8.2E-05 | 0.700 | 0 |