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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.689 | 0.520 | 12 | 121177300 | missense variant | G/A;T | snv | 0.35; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.851 | 0.080 | 12 | 121274274 | missense variant | T/A;G | snv | 0.38 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.040 | 4 | 163346771 | intron variant | T/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 4 | 163351551 | synonymous variant | G/A;T | snv | 0.10; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
16 | 0.742 | 0.320 | 22 | 24441333 | synonymous variant | T/C | snv | 0.54 | 0.52 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
18 | 0.724 | 0.320 | 7 | 34778501 | missense variant | A/T | snv | 0.44 | 0.47 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 15 | 60908101 | intron variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 4 | 157047466 | intergenic variant | G/A | snv | 0.10 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
2 | 0.925 | 0.040 | 4 | 157167312 | intron variant | A/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.807 | 0.080 | 1 | 31626924 | missense variant | A/G | snv | 0.56 | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 |