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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.807 | 0.120 | 9 | 104902020 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.040 | 9 | 104832083 | intron variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.925 | 0.120 | 9 | 104885374 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.925 | 0.080 | 9 | 104894789 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 1.000 | 0.040 | 9 | 104884939 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
24 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 0.100 | 0.917 | 12 | 2003 | 2019 | |||
|
9 | 0.763 | 0.240 | 9 | 104824472 | missense variant | T/C | snv | 0.030 | 1.000 | 3 | 2013 | 2019 | |||||
|
15 | 0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.790 | 0.240 | 9 | 104794495 | missense variant | T/G | snv | 2.9E-04 | 3.8E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.240 | 9 | 104928169 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.742 | 0.240 | 9 | 104824472 | missense variant | T/C | snv | 0.21 | 0.25 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
7 | 0.882 | 0.120 | 9 | 104826974 | missense variant | C/G;T | snv | 4.3E-04; 5.4E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.120 | 9 | 104928254 | intron variant | G/C | snv | 0.75 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 9 | 104840464 | missense variant | T/C | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
13 | 0.790 | 0.160 | 9 | 104858554 | missense variant | G/A | snv | 1.3E-02 | 4.4E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 |