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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.120 | 17 | 45996612 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
7 | 0.851 | 0.120 | 17 | 46010373 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.925 | 0.200 | 2 | 74378123 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1 | 223752954 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
1 | 5 | 96747369 | missense variant | C/A;T | snv | 6.4E-05; 2.4E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 48431259 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 0.851 | 0.200 | 17 | 45996638 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 5 | 96741548 | missense variant | C/G;T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.100 | 0.952 | 21 | 2001 | 2020 | |||||
|
16 | 0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv | 0.100 | 1.000 | 13 | 2009 | 2019 | |||||
|
30 | 0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 | 0.070 | 1.000 | 7 | 2002 | 2018 | ||||
|
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 | 13 | 94479251 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
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 | ||||
|
5 | 0.851 | 0.120 | 17 | 46014286 | missense variant | C/T | snv | 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 | 7 | 76515192 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
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 | |||||
|
9 | 0.790 | 0.160 | 21 | 26000095 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2006 | 2020 | |||||
|
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 |