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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.807 | 0.160 | 17 | 43104122 | missense variant | C/A;G | snv | 1.2E-05 | 0.020 | 0.500 | 2 | 2003 | 2005 | ||||
|
1 | 17 | 43076544 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
3 | 0.925 | 0.080 | 17 | 43106513 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
11 | 0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.925 | 17 | 43094416 | stop gained | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 17 | 43093787 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
5 | 0.882 | 0.080 | 17 | 43070984 | stop gained | C/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 17 | 43057124 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
8 | 0.827 | 0.200 | 17 | 43091933 | stop gained | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
8 | 0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.160 | 17 | 43115759 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.790 | 0.200 | 17 | 43093901 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.160 | 17 | 43104910 | missense variant | A/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 17 | 43045757 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
5 | 0.882 | 0.200 | 17 | 43094415 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
7 | 0.851 | 0.160 | 17 | 43094550 | frameshift variant | GT/- | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.790 | 0.200 | 17 | 43115759 | frameshift variant | G/- | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 17 | 43094296 | frameshift variant | ACAT/TG | delins | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
7 | 0.807 | 0.160 | 17 | 43115755 | frameshift variant | ACAGG/- | delins | 0.010 | 1.000 | 1 | 2017 | 2017 |