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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 17 | 7676379 | splice donor variant | -/A | delins | 0.700 | 0 | ||||||||||
|
3 | 17 | 7676271 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 7673707 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 7675096 | frameshift variant | -/ACCTC | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 7676211 | stop gained | -/ATT | delins | 0.700 | 0 | ||||||||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.700 | 0 | ||||||||
|
1 | 17 | 7673777 | frameshift variant | -/C | ins | 0.700 | 0 | ||||||||||
|
1 | 17 | 7676244 | stop gained | -/CCAT | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 7673757 | frameshift variant | -/CT | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 7673756 | frameshift variant | -/CTTCTCTTCCTCTGTGC | delins | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||||
|
2 | 1.000 | 0.120 | 17 | 7676039 | frameshift variant | -/GAAACCG | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 17 | 7676537 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||||
|
1 | 17 | 7674249 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 17 | 7673795 | missense variant | A/C | snv | 0.700 | 1.000 | 4 | 1994 | 2015 | |||||
|
1 | 17 | 7675211 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2001 | 2008 | ||||||
|
1 | 17 | 7674179 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 17 | 7674268 | missense variant | A/C;G | snv | 0.700 | 1.000 | 3 | 2000 | 2016 | |||||
|
23 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 9 | 1995 | 2017 | |||||
|
22 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 5 | 2002 | 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 | |||||
|
22 | 0.689 | 0.400 | 17 | 7675075 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 5 | 2002 | 2013 | |||||
|
14 | 0.752 | 0.240 | 17 | 7673799 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 3 | 2003 | 2012 | |||||
|
21 | 0.695 | 0.280 | 17 | 7674873 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 1994 | 2016 | ||||
|
3 | 0.925 | 0.200 | 17 | 7674226 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 3 | 1994 | 2015 |