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 | 3 | 38736063 | intron variant | T/G | snv | 0.67 | 0.830 | 1.000 | 4 | 2013 | 2018 | ||||
|
6 | 0.925 | 0.120 | 3 | 38592432 | intron variant | G/C | snv | 0.11 | 0.820 | 1.000 | 3 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 38738568 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.851 | 0.200 | 1 | 162115895 | intron variant | G/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 3 | 38708884 | intron variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 38746306 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 3 | 38763097 | intron variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 3 | 38757345 | intron variant | C/T | snv | 0.70 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 38736700 | intron variant | T/C | snv | 0.59 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 38762148 | intron variant | G/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 38760760 | intron variant | A/G | snv | 0.33 | 0.31 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 3 | 38730503 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 6 | 125769231 | regulatory region variant | T/A;C | snv | 0.830 | 1.000 | 4 | 2013 | 2017 | |||||
|
10 | 0.776 | 0.120 | 3 | 38551022 | stop gained | C/A;T | snv | 4.0E-06 | 0.720 | 1.000 | 18 | 1999 | 2018 | ||||
|
2 | 0.925 | 0.080 | 3 | 38603999 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 2002 | 2013 | ||||
|
4 | 0.882 | 0.120 | 3 | 38597737 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 2002 | 2015 | ||||
|
9 | 0.763 | 0.120 | 3 | 38550500 | stop gained | G/A | snv | 4.5E-05 | 4.9E-05 | 0.700 | 1.000 | 6 | 2005 | 2017 | |||
|
2 | 0.925 | 0.120 | 3 | 38551487 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2007 | 2016 | ||||
|
2 | 0.925 | 0.120 | 3 | 38613782 | stop gained | G/A;C | snv | 0.710 | 1.000 | 4 | 2009 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38554320 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2004 | 2010 | |||||
|
1 | 1.000 | 0.080 | 3 | 38581226 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
1 | 1.000 | 0.080 | 3 | 38586012 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2005 | 2008 | |||||
|
2 | 0.925 | 0.120 | 3 | 38579439 | stop gained | C/A;G;T | snv | 8.1E-06 | 0.710 | 1.000 | 2 | 2013 | 2017 | ||||
|
2 | 0.925 | 0.120 | 3 | 38585903 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
1 | 1.000 | 0.080 | 3 | 38550542 | stop gained | G/A | snv | 1.2E-05 | 3.5E-05 | 0.700 | 1.000 | 2 | 2014 | 2017 |