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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 1 | 196747189 | missense variant | C/T | snv | 0.750 | 1.000 | 5 | 2006 | 2010 | |||||
|
2 | 0.925 | 0.120 | 1 | 196747207 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.730 | 1.000 | 3 | 2006 | 2019 | |||
|
16 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.020 | 1.000 | 2 | 2008 | 2016 | |||
|
3 | 0.882 | 0.200 | 1 | 196673077 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2011 | 2017 | |||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
19 | 0.695 | 0.440 | 1 | 196740644 | missense variant | G/T | snv | 0.20 | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.120 | 1 | 196747209 | stop gained | G/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 1 | 196737486 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 1 | 196736878 | missense variant | T/C | snv | 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 1 | 196740686 | missense variant | G/A;T | snv | 8.0E-06; 3.9E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 1 | 196743490 | missense variant | T/C | snv | 6.6E-04 | 2.8E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.120 | 1 | 196743496 | missense variant | G/C | snv | 6.1E-04 | 2.8E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.200 | 1 | 196745862 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
33 | 0.645 | 0.560 | 1 | 196673103 | missense variant | G/A | snv | 0.32 | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 |