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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 0.080 | 7 | 5529540 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
31 | 0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
23 | 0.763 | 0.280 | 9 | 85596450 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
23 | 0.763 | 0.280 | 9 | 85588465 | frameshift variant | G/- | del | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 1 | 17011736 | start lost | C/A | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
45 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
14 | 0.882 | 0.080 | 9 | 92719007 | inframe deletion | ATT/- | del | 0.700 | 0 | ||||||||
|
12 | 0.807 | 0.400 | 13 | 32339288 | frameshift variant | GAAA/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 19 | 13371744 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||
|
6 | 0.882 | 0.120 | 15 | 42399617 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
3 | 15 | 42387891 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||||
|
21 | 0.827 | 0.120 | 15 | 42387803 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.040 | 2 | 232535143 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.040 | 2 | 232531353 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
2 | 17 | 42562625 | start lost | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 17 | 42562414 | start lost | G/A | snv | 1.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
37 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | ||||||||
|
33 | 0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.160 | 21 | 46125776 | intron variant | G/A | snv | 1.1E-04 | 7.7E-05 | 0.700 | 0 | ||||||
|
13 | 0.851 | 0.200 | MT | 15923 | non coding transcript exon variant | A/G | snv | 0.700 | 1.000 | 4 | 1993 | 2018 | |||||
|
6 | 0.882 | 0.200 | 2 | 219421532 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
6 | 0.925 | 0.160 | 2 | 219421365 | missense variant | G/A;C | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.807 | 0.200 | 2 | 219420939 | missense variant | G/A;C;T | snv | 6.8E-05 | 0.710 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | X | 32573812 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 | 0.700 | 0 | |||||||||
|
3 | 1.000 | 0.080 | 6 | 38722964 | missense variant | A/T | snv | 8.2E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |