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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.030 | 1.000 | 3 | 2010 | 2016 | |||||
|
1 | 1.000 | 0.120 | 17 | 7675992 | splice region variant | -/C | delins | 0.700 | 1.000 | 2 | 2007 | 2010 | |||||
|
1 | 1.000 | 0.120 | 17 | 7668202 | intron variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673749 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 17 | 7676039 | frameshift variant | -/GAAACCG | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 17 | 7675076 | frameshift variant | -/GGTGGGGGCAGCGCCTCAC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676212 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676004 | frameshift variant | -/TTGGCTGTCCCAGAATGCAAGAAGCCCAGAC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676074 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676550 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674249 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.240 | 17 | 7673811 | missense variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2003 | 2003 | |||||
|
22 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 0.800 | 1.000 | 12 | 1990 | 2014 | |||||
|
2 | 1.000 | 0.120 | 17 | 7674193 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 11 | 1990 | 2014 | |||||
|
17 | 0.716 | 0.320 | 17 | 7674263 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 9 | 1994 | 2013 | |||||
|
22 | 0.689 | 0.400 | 17 | 7675075 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 9 | 2003 | 2018 | |||||
|
32 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 6 | 2003 | 2016 | |||||
|
3 | 0.925 | 0.240 | 17 | 7675992 | splice donor variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.925 | 0.200 | 17 | 7674226 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.240 | 17 | 7673699 | splice donor variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
28 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.800 | 1.000 | 25 | 1990 | 2017 | |||||
|
2 | 0.925 | 0.120 | 17 | 7670678 | missense variant | A/G | snv | 0.800 | 1.000 | 21 | 1990 | 2017 | |||||
|
2 | 0.925 | 0.120 | 17 | 7674208 | missense variant | A/G | snv | 0.700 | 1.000 | 18 | 1990 | 2017 | |||||
|
3 | 0.925 | 0.120 | 17 | 7675214 | start lost | A/G | snv | 0.700 | 1.000 | 18 | 1990 | 2017 | |||||
|
2 | 0.925 | 0.160 | 17 | 7673789 | stop gained | A/G;T | snv | 0.700 | 0 |