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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 1.000 | 8 | 1997 | 2017 | |||||
|
41 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 8 | 1997 | 2014 | ||||
|
16 | 0.742 | 0.360 | 10 | 87960957 | stop gained | A/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 7 | 1998 | 2008 | ||||
|
2 | 1.000 | 0.080 | 10 | 87933087 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 1997 | 2006 | ||||
|
2 | 1.000 | 0.040 | 10 | 87952118 | stop gained | G/A;T | snv | 0.700 | 1.000 | 4 | 2010 | 2013 | |||||
|
12 | 0.752 | 0.200 | 10 | 87933144 | stop gained | G/A;T | snv | 0.700 | 1.000 | 4 | 1997 | 2015 | |||||
|
9 | 0.776 | 0.160 | 10 | 87952258 | stop gained | C/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2001 | 2014 | ||||
|
2 | 1.000 | 0.080 | 10 | 87960984 | stop gained | C/A;G;T | snv | 1.2E-05 | 0.700 | 1.000 | 3 | 2011 | 2013 | ||||
|
2 | 1.000 | 0.080 | 10 | 87961100 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2006 | 2017 | |||
|
2 | 1.000 | 0.080 | 10 | 87952136 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2006 | 2015 | |||||
|
2 | 1.000 | 0.080 | 10 | 87864518 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2011 | 2015 | ||||
|
2 | 1.000 | 0.080 | 10 | 87933204 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
3 | 0.925 | 0.240 | 10 | 87961051 | stop gained | T/A;G | snv | 0.700 | 1.000 | 2 | 2003 | 2013 | |||||
|
1 | 10 | 87952165 | stop gained | C/G | snv | 0.700 | 1.000 | 2 | 2007 | 2011 | |||||||
|
1 | 10 | 87960942 | stop gained | G/T | snv | 0.700 | 1.000 | 2 | 2008 | 2014 | |||||||
|
6 | 0.925 | 0.080 | 10 | 87957951 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 1998 | 2006 | ||||
|
1 | 10 | 87933207 | stop gained | G/T | snv | 0.700 | 1.000 | 2 | 2011 | 2015 | |||||||
|
8 | 0.790 | 0.160 | 10 | 87961067 | stop gained | TGACAAAGCAAATA/CGCTT | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 10 | 87894083 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
2 | 1.000 | 0.080 | 10 | 87933018 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 10 | 87933092 | stop gained | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 1.000 | 0.080 | 10 | 87864517 | stop gained | T/A;C;G | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 10 | 87960914 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.320 | 10 | 87957958 | stop gained | T/A;C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.080 | 10 | 87961033 | stop gained | -/ATATCTAG | delins | 0.700 | 0 |