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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
16 | 0.742 | 0.320 | 22 | 24441333 | synonymous variant | T/C | snv | 0.54 | 0.52 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
11 | 0.827 | 0.200 | 22 | 24429543 | non coding transcript exon variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 1.000 | 0.040 | 1 | 7970934 | missense variant | G/A | snv | 7.9E-03 | 7.0E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 12 | 13885069 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1 | 20633841 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 12 | 13683379 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 114150007 | intron variant | A/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 6 | 162262647 | missense variant | C/A;T | snv | 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 203136227 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |