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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 19 | 11120458 | frameshift variant | -/A | delins | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.827 | 0.160 | 12 | 57398797 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
9 | 0.807 | 0.160 | 8 | 19954279 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
2 | 0.925 | 0.080 | 2 | 21041055 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
5 | 0.827 | 0.120 | 19 | 11113699 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
5 | 0.827 | 0.160 | 6 | 12927312 | intron variant | C/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 19 | 11106605 | missense variant | T/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.080 | 2 | 21043787 | intron variant | C/G | snv | 4.8E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 19 | 11131312 | missense variant | C/A;T | snv | 5.2E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
9 | 0.790 | 0.240 | 9 | 22124505 | intron variant | A/T | snv | 0.63 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 1 | 55058640 | missense variant | G/A;C;T | snv | 1.6E-05; 4.9E-05; 1.6E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 2 | 21011802 | missense variant | C/T | snv | 1.3E-03 | 1.4E-03 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
16 | 0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.120 | 2 | 21035701 | missense variant | G/A;C;T | snv | 4.0E-06; 6.0E-05 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
5 | 0.851 | 0.120 | 6 | 160442500 | intron variant | T/C | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 12 | 6347896 | missense variant | T/A;C;G | snv | 4.5E-06; 0.69 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
24 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
19 | 0.724 | 0.280 | 16 | 56983380 | missense variant | A/G | snv | 2.6E-03 | 6.5E-04 | 0.010 | 1.000 | 1 | 1997 | 1997 |