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 | 1.000 | 0.160 | 17 | 44255707 | missense variant | C/T | snv | 0.750 | 1.000 | 5 | 1998 | 2008 | |||||
|
1 | 1.000 | 0.160 | 17 | 44255259 | missense variant | G/A | snv | 0.710 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.160 | 10 | 69398764 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.160 | 3 | 27390094 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.160 | 6 | 38786789 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.160 | 12 | 48145569 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.160 | 17 | 44258106 | missense variant | G/A;T | snv | 4.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.160 | 17 | 44255272 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.160 | 17 | 44262056 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.790 | 0.200 | 17 | 44253327 | missense variant | C/T | snv | 4.0E-05 | 2.1E-05 | 0.100 | 1.000 | 10 | 1999 | 2010 | |||
|
4 | 0.882 | 0.200 | 17 | 44251241 | missense variant | G/T | snv | 7.2E-05 | 2.1E-05 | 0.740 | 0.750 | 4 | 2006 | 2010 | |||
|
5 | 0.827 | 0.200 | 17 | 44251583 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2004 | 2006 | |||||
|
9 | 0.807 | 0.200 | 17 | 44255708 | missense variant | G/A;T | snv | 0.710 | 1.000 | 1 | 2003 | 2003 | |||||
|
3 | 0.882 | 0.200 | 17 | 44255292 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.200 | 15 | 53665757 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.200 | 15 | 53615684 | missense variant | A/T | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.240 | 15 | 53615520 | stop gained | G/A | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.280 | 7 | 138771243 | missense variant | A/C;G;T | snv | 0.69 | 0.010 | 1.000 | 1 | 2014 | 2014 |