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 | 0.120 | X | 100689933 | missense variant | G/A | snv | 5.6E-04 | 3.8E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 12 | 10123963 | intron variant | A/G | snv | 0.55 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 19 | 10145541 | intron variant | G/A;T | snv | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 19 | 10156590 | intron variant | C/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 102035481 | synonymous variant | C/A;T | snv | 6.5E-02; 2.0E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
10 | 0.790 | 0.120 | 20 | 10306436 | 3 prime UTR variant | G/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.120 | 20 | 10306440 | 3 prime UTR variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 3 | 10338239 | missense variant | C/T | snv | 0.49 | 0.47 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 3 | 10345375 | intron variant | C/A;T | snv | 0.45 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.851 | 0.040 | 7 | 103489956 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 7 | 103540259 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 10355304 | intron variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 3 | 10360419 | intron variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 7 | 103610714 | missense variant | G/A;C;T | snv | 1.2E-05; 0.12 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.851 | 0.240 | 7 | 103764368 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 7 | 107207047 | intron variant | T/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 7 | 107940394 | non coding transcript exon variant | A/G | snv | 0.63 | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 7 | 107953544 | missense variant | T/C | snv | 0.65 | 0.66 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 7 | 107986325 | synonymous variant | G/A | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.040 | 12 | 108888108 | intron variant | G/A | snv | 0.34 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.040 | 12 | 108894208 | intron variant | A/G | snv | 0.18 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.040 | 6 | 10982126 | 3 prime UTR variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.200 | 6 | 11021921 | intron variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 6 | 11026766 | intron variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 6 | 11041932 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 |