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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||
|
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 | |||||
|
4 | 0.882 | 0.120 | 22 | 21772907 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
4 | 0.925 | 0.200 | 2 | 74378123 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |