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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.080 | 1 | 179559710 | missense variant | C/T | snv | 1.4E-05 | 0.800 | 1.000 | 24 | 2000 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 179552605 | missense variant | G/A;C | snv | 2.0E-05; 4.0E-06 | 0.800 | 1.000 | 22 | 2000 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 179559711 | missense variant | G/A | snv | 0.800 | 1.000 | 16 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 179551304 | missense variant | G/A | snv | 0.700 | 1.000 | 14 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 179561315 | missense variant | A/G | snv | 0.700 | 1.000 | 14 | 2000 | 2015 | |||||
|
2 | 0.925 | 0.080 | 1 | 179575591 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 14 | 2000 | 2015 | |||||
|
2 | 0.925 | 0.080 | 1 | 179559734 | missense variant | T/A;C | snv | 0.800 | 1.000 | 14 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 179551360 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05; 2.0E-05 | 0.700 | 1.000 | 14 | 2000 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 179551435 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 2002 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 179559746 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 7 | 2004 | 2017 | |||||
|
2 | 0.925 | 0.080 | 1 | 179551377 | frameshift variant | A/- | del | 1.2E-05 | 0.700 | 1.000 | 6 | 2004 | 2013 | ||||
|
2 | 0.925 | 0.080 | 1 | 179552614 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2002 | 2015 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.030 | 1.000 | 3 | 2015 | 2017 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 0.925 | 0.080 | 1 | 179557179 | stop gained | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.700 | 1.000 | 2 | 2001 | 2005 | ||||
|
2 | 0.925 | 0.080 | 1 | 179552602 | splice donor variant | C/T | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
2 | 0.925 | 0.080 | 1 | 179564689 | splice donor variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 179561287 | splice donor variant | A/T | snv | 0.700 | 1.000 | 2 | 2004 | 2014 | |||||
|
2 | 0.925 | 0.080 | 1 | 179557080 | stop gained | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 1 | 179575616 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
18 | 0.689 | 0.400 | 7 | 22728790 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 1 | 179561355 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 179551361 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2004 | 2004 |