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 | 12 | 114366360 | missense variant | C/T | snv | 1.2E-03 | 4.1E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
15 | 0.827 | 0.360 | 17 | 46171276 | stop gained | G/A | snv | 5.2E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
18 | 0.807 | 0.280 | 1 | 8358231 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
17 | 0.790 | 0.400 | 1 | 92833544 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 5 | 173232833 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
54 | 0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
59 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 12 | 114398639 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
23 | 0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 18 | 22172215 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.851 | 0.240 | 18 | 44951954 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.080 | X | 41210540 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | X | 72490973 | missense variant | A/C;T | snv | 0.700 | 0 | |||||||||
|
4 | 0.882 | 0.160 | 1 | 155910693 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.320 | 8 | 60781285 | frameshift variant | AA/T | delins | 0.700 | 0 | ||||||||
|
7 | 1.000 | 9 | 83972190 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
|
7 | 0.807 | 0.120 | 11 | 61783599 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.040 | 15 | 74345160 | frameshift variant | AG/- | del | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.240 | 16 | 3729444 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 4 | 4633549 | intron variant | C/A | snv | 0.20 | 0.030 | 1.000 | 3 | 2014 | 2016 | ||||
|
5 | 0.925 | 0.120 | 12 | 6333180 | missense variant | A/G | snv | 0.64 | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
26 | 0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 2 | 130597533 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
4 | 0.925 | 0.080 | 11 | 47337496 | missense variant | C/T | snv | 1.5E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 1.000 | 0.080 | 10 | 33186354 | missense variant | C/T | snv | 0.12 | 9.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 |