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 | 7 | 38461398 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 0.882 | 0.120 | 3 | 119863583 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
4 | 0.882 | 0.120 | 14 | 77469161 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 5 | 96740769 | missense variant | C/T | snv | 4.0E-06 | 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 | ||||
|
1 | 10 | 101799033 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
5 | 0.851 | 0.120 | 8 | 109575782 | frameshift variant | GA/- | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 10 | 48431259 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 94479251 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 15 | 88899478 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
12 | 0.752 | 0.200 | 17 | 45942346 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 6 | 31270083 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
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 | |||||
|
11 | 0.807 | 0.080 | 21 | 32695106 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
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 | |||||
|
7 | 0.851 | 0.120 | 17 | 46010373 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.827 | 0.120 | 17 | 46018629 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
5 | 0.851 | 0.120 | 17 | 46014286 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 5 | 96741548 | missense variant | C/G;T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1 | 223752954 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
4 | 0.882 | 0.080 | 7 | 80672000 | missense variant | C/T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 20 | 51523286 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |