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 | 17 | 7196908 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
1 | 7 | 38461398 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 5 | 96740769 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 101799033 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
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 | ||||||
|
1 | 6 | 31270083 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 6 | 43782006 | missense variant | C/T | snv | 2.8E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
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 | ||||||
|
1 | 20 | 51523286 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 102085426 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 76515192 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 5 | 96747369 | missense variant | C/A;T | snv | 6.4E-05; 2.4E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 76515186 | missense variant | C/T | snv | 4.7E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 96746417 | missense variant | C/T | snv | 2.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 21 | 25997384 | missense variant | G/A;C | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
2 | 2 | 177231705 | missense variant | G/A | snv | 3.2E-05 | 4.9E-05 | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||
|
2 | 2 | 177231657 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||||
|
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 | |||||
|
4 | 0.882 | 0.120 | 17 | 45983865 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
4 | 0.882 | 0.120 | 17 | 45996612 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
4 | 0.882 | 0.080 | 7 | 80672000 | missense variant | C/T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 |