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 | 0.080 | 19 | 50859281 | intron variant | T/G | snv | 4.9E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.080 | 19 | 50858501 | missense variant | T/C | snv | 5.5E-02 | 4.9E-02 | 0.750 | 0.667 | 5 | 2011 | 2015 | |||
|
4 | 0.882 | 0.080 | 19 | 50856335 | missense variant | G/A | snv | 4.0E-05 | 2.3E-04 | 0.040 | 0.750 | 4 | 2000 | 2008 | |||
|
2 | 0.925 | 0.080 | 19 | 50858126 | missense variant | G/A | snv | 2.4E-02 | 2.5E-02 | 0.020 | 1.000 | 2 | 2010 | 2019 | |||
|
2 | 0.925 | 0.080 | 19 | 50860089 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 0.020 | 1.000 | 2 | 2005 | 2010 | |||
|
2 | 0.925 | 0.080 | 19 | 50858075 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 19 | 50856263 | missense variant | C/T | snv | 8.0E-05 | 2.8E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.080 | 19 | 50858491 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.080 | 19 | 50856347 | missense variant | G/A | snv | 3.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.200 | 19 | 50860077 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.080 | 19 | 50858171 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.080 | 19 | 50856344 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 19 | 50857584 | non coding transcript exon variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 19 | 50860142 | 3 prime UTR variant | C/T | snv | 0.75 | 0.74 | 0.720 | 1.000 | 2 | 2008 | 2018 | |||
|
4 | 0.925 | 0.080 | 19 | 50854757 | upstream gene variant | G/A | snv | 0.49 | 0.050 | 0.800 | 5 | 2006 | 2018 |