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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 10 | 101799033 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 14 | 102085426 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.851 | 0.120 | 8 | 109575782 | frameshift variant | GA/- | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
4 | 0.882 | 0.120 | 3 | 119863583 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 2 | 177231657 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||||
|
2 | 2 | 177231705 | missense variant | G/A | snv | 3.2E-05 | 4.9E-05 | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||
|
4 | 0.882 | 0.120 | 22 | 21772907 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1 | 223752954 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
2 | 1.000 | 0.080 | 21 | 25997384 | missense variant | G/A;C | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
9 | 0.790 | 0.160 | 21 | 26000095 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2006 | 2020 | |||||
|
1 | 6 | 31270083 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
11 | 0.807 | 0.080 | 21 | 32695106 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 7 | 38461398 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 6 | 43782006 | missense variant | C/T | snv | 2.8E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
12 | 0.752 | 0.200 | 17 | 45942346 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.120 | 17 | 45983865 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
17 | 0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 | 0.060 | 1.000 | 6 | 2011 | 2019 | ||||
|
4 | 0.882 | 0.120 | 17 | 45996612 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
5 | 0.851 | 0.200 | 17 | 45996638 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
7 | 0.827 | 0.120 | 17 | 45996657 | missense variant | G/T | snv | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||||
|
23 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.030 | 1.000 | 3 | 1999 | 2007 | ||||
|
7 | 0.851 | 0.120 | 17 | 46010373 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
16 | 0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv | 0.100 | 1.000 | 13 | 2009 | 2019 | |||||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.100 | 0.952 | 21 | 2001 | 2020 |