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 | 0.827 | 0.080 | 1 | 201364336 | missense variant | G/A;T | snv | 1.2E-04 | 0.720 | 1.000 | 13 | 2001 | 2016 | ||||
|
5 | 0.851 | 0.080 | 1 | 201364366 | missense variant | G/A;C | snv | 0.720 | 1.000 | 8 | 2003 | 2016 | |||||
|
4 | 0.882 | 0.080 | 1 | 201361971 | inframe deletion | CTT/- | delins | 0.700 | 1.000 | 15 | 2000 | 2019 | |||||
|
5 | 0.851 | 0.080 | 1 | 201363349 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2012 | 2013 | ||||
|
1 | 1 | 201364365 | missense variant | C/G;T | snv | 0.700 | 1.000 | 4 | 2004 | 2014 | |||||||
|
4 | 0.882 | 0.080 | 1 | 201363348 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 2010 | 2017 | |||||
|
1 | 1 | 201364357 | missense variant | G/A;C;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 2 | 2008 | 2009 | ||||||
|
1 | 1 | 201364327 | missense variant | G/A | snv | 3.2E-05 | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||||
|
1 | 1 | 201363352 | missense variant | C/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1 | 201365610 | missense variant | A/C | snv | 0.700 | 0 | ||||||||||
|
1 | 1 | 201365220 | missense variant | C/T | snv | 0.700 | 0 | ||||||||||
|
7 | 0.827 | 0.080 | 1 | 201361989 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1 | 201365247 | missense variant | GA/AC | mnv | 0.700 | 0 |