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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.807 | 0.120 | 1 | 201365297 | missense variant | C/A;T | snv | 0.800 | 1.000 | 29 | 1994 | 2015 | |||||
|
5 | 0.827 | 0.080 | 1 | 201365298 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.800 | 1.000 | 22 | 1994 | 2016 | |||
|
4 | 0.851 | 0.080 | 1 | 201365638 | missense variant | A/T | snv | 4.0E-06 | 0.800 | 1.000 | 21 | 1994 | 2013 | ||||
|
4 | 0.851 | 0.080 | 1 | 201365291 | missense variant | C/A;T | snv | 0.800 | 1.000 | 20 | 1991 | 2017 | |||||
|
4 | 0.851 | 0.080 | 1 | 201364369 | missense variant | G/A | snv | 1.4E-05 | 0.800 | 1.000 | 19 | 1994 | 2014 | ||||
|
5 | 0.851 | 0.080 | 1 | 201359244 | missense variant | C/G;T | snv | 1.2E-05 | 0.800 | 1.000 | 19 | 1994 | 2014 | ||||
|
6 | 0.807 | 0.120 | 1 | 201365244 | missense variant | A/C;G;T | snv | 0.800 | 1.000 | 14 | 1994 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 201359221 | missense variant | G/A;T | snv | 2.5E-05 | 7.0E-06 | 0.700 | 1.000 | 14 | 1994 | 2012 | |||
|
4 | 0.851 | 0.080 | 1 | 201359245 | missense variant | G/A | snv | 3.6E-04 | 4.3E-04 | 0.800 | 1.000 | 13 | 1994 | 2012 | |||
|
4 | 0.851 | 0.080 | 1 | 201368212 | missense variant | G/A;T | snv | 4.5E-04; 4.0E-06 | 0.700 | 1.000 | 13 | 1994 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 201365666 | missense variant | A/G | snv | 0.700 | 1.000 | 13 | 1994 | 2012 | |||||
|
6 | 0.827 | 0.080 | 1 | 201364336 | missense variant | G/A;T | snv | 1.2E-04 | 0.700 | 1.000 | 10 | 2001 | 2015 | ||||
|
5 | 0.851 | 0.080 | 1 | 201364366 | missense variant | G/A;C | snv | 0.700 | 1.000 | 7 | 2004 | 2013 | |||||
|
4 | 0.851 | 0.080 | 1 | 201365617 | missense variant | T/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 6 | 2003 | 2017 | |||
|
4 | 0.851 | 0.080 | 1 | 201365261 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.800 | 1.000 | 6 | 1997 | 2017 | |||
|
4 | 0.882 | 0.080 | 1 | 201363348 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 2010 | 2013 | |||||
|
5 | 0.827 | 0.080 | 1 | 201363330 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 2000 | 2017 | |||||
|
5 | 0.827 | 0.080 | 1 | 201359217 | stop gained | C/A;T | snv | 4.1E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 2003 | 2013 | |||
|
4 | 0.851 | 0.080 | 1 | 201359216 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 2003 | 2013 | |||||
|
7 | 0.827 | 0.080 | 1 | 201361989 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2009 | 2017 | ||||
|
5 | 0.851 | 0.080 | 1 | 201363349 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2012 | 2013 | ||||
|
3 | 0.882 | 0.080 | 1 | 201361988 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.882 | 0.080 | 1 | 201359632 | missense variant | T/A | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 1 | 201359622 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 1 | 201363379 | missense variant | C/T | snv | 0.700 | 0 |