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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
41 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 14 | 1997 | 2018 | ||||
|
32 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 1.000 | 9 | 1997 | 2015 | |||||
|
25 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 1.000 | 8 | 1997 | 2014 | |||||
|
2 | 1.000 | 0.080 | 10 | 87864517 | stop gained | T/A;C;G | snv | 8.0E-06 | 0.700 | 1.000 | 6 | 2003 | 2011 | ||||
|
9 | 0.776 | 0.160 | 10 | 87952258 | stop gained | C/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 1975 | 2014 | ||||
|
2 | 1.000 | 0.080 | 10 | 87952136 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2006 | 2016 | |||||
|
4 | 0.882 | 0.320 | 10 | 87957958 | stop gained | T/A;C;G | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 87894032 | stop gained | T/A | snv | 0.700 | 1.000 | 2 | 2014 | 2015 | |||||
|
1 | 1.000 | 0.080 | 10 | 87952165 | stop gained | CC/GT | mnv | 0.700 | 1.000 | 2 | 2007 | 2011 | |||||
|
2 | 1.000 | 0.080 | 10 | 87960984 | stop gained | C/A;G;T | snv | 1.2E-05 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
7 | 0.790 | 0.160 | 10 | 87952159 | stop gained | TA/AT | mnv | 0.700 | 1.000 | 2 | 1998 | 2013 | |||||
|
2 | 0.925 | 0.080 | 10 | 87925518 | stop gained | T/A;G | snv | 0.700 | 1.000 | 2 | 1997 | 2016 | |||||
|
2 | 1.000 | 0.080 | 10 | 87925543 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2013 | 2016 | |||||
|
3 | 0.925 | 0.240 | 10 | 87961051 | stop gained | T/A;G | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 0.925 | 0.080 | 10 | 87933228 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 1994 | 1994 | |||||
|
7 | 0.790 | 0.160 | 10 | 87957984 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
2 | 0.925 | 0.080 | 10 | 87957893 | stop gained | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 87925524 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.080 | 10 | 87933075 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.320 | 10 | 87933175 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 10 | 87957885 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 10 | 87933087 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.790 | 0.160 | 10 | 87961067 | stop gained | TGACAAAGCAAATA/CGCTT | delins | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.240 | 10 | 87957858 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 10 | 87957872 | stop gained | C/A | snv | 0.700 | 0 |