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 | ||||
|
3 | 0.882 | 0.120 | 6 | 125769231 | regulatory region variant | T/A;C | snv | 0.830 | 1.000 | 4 | 2013 | 2017 | |||||
|
6 | 0.925 | 0.120 | 3 | 38592432 | intron variant | G/C | snv | 0.11 | 0.820 | 1.000 | 3 | 2013 | 2018 | ||||
|
5 | 0.827 | 0.120 | 3 | 38551513 | missense variant | G/A;T | snv | 4.0E-06 | 0.740 | 1.000 | 13 | 1998 | 2015 | ||||
|
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 | 38606709 | missense variant | C/A;T | snv | 0.720 | 1.000 | 12 | 2002 | 2018 | |||||
|
3 | 0.882 | 0.120 | 3 | 38550988 | missense variant | T/C | snv | 0.720 | 1.000 | 5 | 2001 | 2008 | |||||
|
2 | 0.925 | 0.080 | 3 | 38606682 | missense variant | C/A;T | snv | 8.1E-06 | 0.710 | 1.000 | 10 | 2004 | 2017 | ||||
|
3 | 0.882 | 0.120 | 3 | 38562422 | missense variant | C/A | snv | 4.2E-05 | 2.8E-05 | 0.710 | 1.000 | 10 | 2002 | 2014 | |||
|
3 | 0.882 | 0.120 | 3 | 38597787 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.710 | 1.000 | 7 | 2002 | 2019 | ||||
|
2 | 0.925 | 0.120 | 3 | 38613782 | stop gained | G/A;C | snv | 0.710 | 1.000 | 4 | 2009 | 2016 | |||||
|
2 | 0.925 | 0.080 | 3 | 38630341 | missense variant | C/T | snv | 4.0E-06 | 0.710 | 1.000 | 3 | 2010 | 2014 | ||||
|
2 | 0.925 | 0.120 | 3 | 38579439 | stop gained | C/A;G;T | snv | 8.1E-06 | 0.710 | 1.000 | 2 | 2013 | 2017 | ||||
|
5 | 0.827 | 0.120 | 3 | 38622401 | stop gained | C/A;G;T | snv | 4.1E-06 | 0.710 | < 0.001 | 1 | 2005 | 2005 | ||||
|
15 | 0.732 | 0.120 | 3 | 38613781 | missense variant | C/A;T | snv | 4.1E-06 | 0.700 | 1.000 | 10 | 2005 | 2015 | ||||
|
3 | 0.882 | 0.120 | 3 | 38551070 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 9 | 2002 | 2015 | ||||
|
3 | 0.882 | 0.120 | 3 | 38551243 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 8 | 2000 | 2016 | |||
|
15 | 0.742 | 0.120 | 3 | 38566426 | missense variant | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 8 | 2003 | 2015 | ||||
|
3 | 0.882 | 0.120 | 3 | 38551520 | inframe deletion | AAG/- | delins | 2.0E-05 | 0.700 | 1.000 | 8 | 2000 | 2017 | ||||
|
6 | 0.807 | 0.120 | 3 | 38551504 | missense variant | C/A;T | snv | 0.700 | 1.000 | 7 | 1998 | 2010 | |||||
|
2 | 0.925 | 0.080 | 3 | 38603999 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 2002 | 2013 | ||||
|
4 | 0.851 | 0.120 | 3 | 38630342 | missense variant | G/A | snv | 0.700 | 1.000 | 7 | 2009 | 2015 | |||||
|
1 | 1.000 | 0.080 | 3 | 38566408 | splice donor variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 6 | 2007 | 2017 | ||||
|
9 | 0.763 | 0.120 | 3 | 38606710 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 6 | 2002 | 2017 | |||
|
4 | 0.882 | 0.120 | 3 | 38597737 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 2002 | 2015 |