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 | 17 | 7675109 | missense variant | T/C | snv | 0.700 | 1.000 | 6 | 1998 | 2007 | |||||||
|
12 | 0.763 | 0.160 | 17 | 7674248 | missense variant | T/C | snv | 0.700 | 1.000 | 6 | 1994 | 2010 | |||||
|
22 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 5 | 2002 | 2011 | |||||
|
2 | 1.000 | 0.120 | 17 | 7675098 | missense variant | C/A | snv | 0.700 | 1.000 | 5 | 2005 | 2016 | |||||
|
24 | 0.683 | 0.480 | 17 | 7673806 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 1992 | 2011 | ||||
|
22 | 0.695 | 0.440 | 17 | 7673823 | missense variant | C/A;T | snv | 0.700 | 1.000 | 5 | 2001 | 2014 | |||||
|
4 | 0.882 | 0.200 | 17 | 7670684 | missense variant | C/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 1994 | 2015 | ||||
|
22 | 0.689 | 0.480 | 17 | 7673778 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 5 | 1998 | 2011 | |||||
|
1 | 17 | 7676030 | frameshift variant | GCCCAGACGGAA/- | delins | 0.700 | 1.000 | 5 | 1998 | 2014 | |||||||
|
20 | 0.701 | 0.400 | 17 | 7674250 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 2002 | 2011 | ||||
|
21 | 0.695 | 0.440 | 17 | 7675218 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 1997 | 2011 | ||||
|
20 | 0.701 | 0.280 | 17 | 7675125 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 5 | 1994 | 2011 | |||||
|
17 | 0.716 | 0.320 | 17 | 7674263 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 5 | 1994 | 2013 | |||||
|
20 | 0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv | 0.700 | 1.000 | 5 | 1994 | 2011 | |||||
|
22 | 0.689 | 0.400 | 17 | 7675075 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 5 | 2002 | 2013 | |||||
|
5 | 0.882 | 0.080 | 17 | 7674225 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 1996 | 2009 | |||||
|
3 | 0.925 | 0.160 | 17 | 7675174 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 2010 | 2014 | |||||
|
28 | 0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 4 | 1991 | 2011 | ||||
|
34 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2010 | 2014 | ||||
|
2 | 1.000 | 0.120 | 17 | 7673795 | missense variant | A/C | snv | 0.700 | 1.000 | 4 | 1994 | 2015 | |||||
|
2 | 1.000 | 0.120 | 17 | 7673820 | missense variant | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 1992 | 2012 | ||||
|
17 | 0.724 | 0.240 | 17 | 7675208 | missense variant | C/A;T | snv | 0.700 | 1.000 | 4 | 1994 | 2010 | |||||
|
1 | 17 | 7674235 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 2002 | 2010 | |||||||
|
2 | 1.000 | 0.120 | 17 | 7675148 | missense variant | G/C;T | snv | 0.700 | 1.000 | 4 | 1994 | 2016 | |||||
|
14 | 0.752 | 0.240 | 17 | 7673799 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 3 | 2003 | 2012 |