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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.160 | 17 | 42901026 | frameshift variant | GT/- | del | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.320 | X | 49251440 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 12 | 101753399 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
11 | 0.776 | 0.320 | X | 154773148 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 8 | 41694003 | frameshift variant | TGGAACTTCCGGCGCCGGGG/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.080 | 11 | 5226943 | stop gained | C/A;G;T | snv | 2.5E-04 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 16 | 173581 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 1 | 155235003 | missense variant | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
36 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.240 | 1 | 155239655 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.160 | 1 | 155236292 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.240 | 2 | 162273810 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
5 | 0.882 | 0.120 | 16 | 67940230 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.120 | 16 | 67940017 | missense variant | T/C | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 1.000 | 0.040 | 22 | 22158022 | intron variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.040 | 14 | 100834675 | non coding transcript exon variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.120 | X | 48792376 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
6 | 0.827 | 0.120 | X | 48792377 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
15 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.827 | 0.160 | X | 154535277 | missense variant | T/A;C | snv | 1.7E-04; 2.6E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.240 | 10 | 63341311 | intron variant | G/C | snv | 0.87 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 |