| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.763 | 0.280 | 17 | 64350416 | missense variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 1 | 179293868 | 5 prime UTR variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
53 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 13 | 108287357 | intron variant | A/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 13 | 108283099 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 226380964 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.790 | 0.360 | 1 | 169704697 | missense variant | G/A;T | snv | 0.21; 3.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 7 | 128400698 | non coding transcript exon variant | C/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.752 | 0.320 | 6 | 167024500 | intron variant | C/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.200 | 13 | 108290686 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.851 | 0.160 | 6 | 167120802 | intron variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
28 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.851 | 0.240 | 17 | 64377836 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.040 | 2 | 79161461 | intron variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 13 | 108283554 | intron variant | A/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.732 | 0.400 | 13 | 32346841 | stop gained | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |