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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.776 | 0.160 | 17 | 43126360 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.807 | 0.120 | 14 | 68232877 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.724 | 0.480 | 22 | 19963746 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
9 | 0.790 | 0.200 | 8 | 127091692 | non coding transcript exon variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.807 | 0.160 | 14 | 68193711 | intron variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.677 | 0.280 | 19 | 1090804 | intron variant | A/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
40 | 0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.807 | 0.120 | 17 | 54979110 | intron variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.807 | 0.120 | 8 | 127091810 | non coding transcript exon variant | G/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 7 | 140776967 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.776 | 0.200 | 2 | 38074936 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.080 | 22 | 19964287 | synonymous variant | G/A;T | snv | 8.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
8 | 0.776 | 0.200 | 14 | 68567965 | intron variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.020 | 1.000 | 2 | 2005 | 2013 |