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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.200 | 9 | 35067913 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.160 | 12 | 64498008 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 17 | 44352489 | missense variant | G/A | snv | 5.2E-05 | 6.3E-05 | 0.020 | 1.000 | 2 | 2009 | 2010 | |||
|
6 | 0.827 | 0.160 | 17 | 46018707 | missense variant | G/A | snv | 2.4E-05 | 5.6E-05 | 0.020 | 1.000 | 2 | 2007 | 2011 | |||
|
3 | 0.882 | 0.200 | 17 | 44351429 | missense variant | C/T | snv | 1.6E-05 | 1.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.160 | 17 | 45993953 | missense variant | C/A;G;T | snv | 6.3E-05; 2.5E-04; 5.3E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.240 | 17 | 45983334 | missense variant | A/T | snv | 9.8E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.160 | 17 | 44351586 | missense variant | G/A;C | snv | 8.4E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
23 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.160 | 17 | 44350481 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.851 | 0.200 | 17 | 45971867 | missense variant | C/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.200 | 17 | 46024014 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |