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 | 0.851 | 0.240 | 20 | 10407704 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.776 | 0.240 | 4 | 122742955 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.240 | 7 | 33152851 | stop gained | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
7 | 0.851 | 0.240 | 12 | 76347023 | frameshift variant | CTAA/- | delins | 4.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.240 | 7 | 33152811 | stop gained | C/T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.240 | 15 | 72735944 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 7 | 33388145 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
17 | 0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.280 | 1 | 36139776 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
9 | 0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.280 | 16 | 56502807 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
17 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.320 | 17 | 19357875 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.360 | 17 | 58208003 | splice acceptor variant | T/C;G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.776 | 0.360 | 17 | 58208153 | inframe deletion | GAG/- | delins | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
22 | 0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.480 | 18 | 51078306 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
11 | 0.776 | 0.480 | 16 | 75541466 | non coding transcript exon variant | A/G | snv | 4.2E-06 | 0.700 | 0 |