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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.882 | 0.280 | 16 | 2496206 | stop gained | C/G;T | snv | 6.0E-05 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.160 | X | 13739017 | frameshift variant | GAAA/- | delins | 0.700 | 1.000 | 2 | 2008 | 2014 | |||||
|
13 | 0.807 | 0.280 | 16 | 2496872 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 2 | 2014 | 2014 | |||
|
9 | 0.882 | 0.280 | 16 | 2496266 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
12 | 0.827 | 0.280 | 16 | 2498262 | frameshift variant | T/- | del | 7.4E-05 | 4.9E-05 | 0.700 | 1.000 | 2 | 2014 | 2014 | |||
|
9 | 0.882 | 0.280 | 16 | 2499425 | splice region variant | G/A | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 5 | 168486503 | missense variant | A/C;G;T | snv | 4.2E-05 | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||
|
9 | 0.882 | 0.280 | 16 | 2496476 | missense variant | G/A | snv | 4.1E-06 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
9 | 0.882 | 0.280 | 16 | 2496267 | missense variant | G/A;C;T | snv | 4.0E-06; 2.0E-05; 4.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
2 | 1.000 | 6 | 98899353 | missense variant | C/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
9 | 0.882 | 0.280 | 16 | 2498253 | missense variant | G/T | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
2 | 1.000 | 17 | 39684627 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
3 | 0.925 | 0.120 | 10 | 71825892 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.120 | 15 | 68211844 | frameshift variant | -/G | delins | 2.4E-05; 2.8E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.120 | 9 | 131523038 | frameshift variant | TC/-;TCTC | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 1 | 225921209 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.320 | 8 | 99096433 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 1 | 151017860 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 6 | 31780935 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 4 | 786584 | stop gained | C/A | snv | 0.700 | 0 | |||||||||
|
1 | X | 129523364 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
3 | 12 | 124968903 | missense variant | G/T | snv | 0.700 | 0 | ||||||||||
|
1 | 10 | 60071229 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 10 | 24596030 | missense variant | A/C | snv | 0.700 | 0 |