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 | 1.000 | 0.160 | 2 | 148469905 | missense variant | C/A;T | snv | 3.6E-05 | 0.700 | 1.000 | 2 | 2007 | 2012 | ||||
|
1 | 1.000 | 0.160 | 2 | 148469325 | missense variant | G/A | snv | 3.9E-04 | 4.1E-04 | 0.700 | 1.000 | 2 | 2007 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 148489474 | missense variant | C/T | snv | 4.8E-04 | 3.3E-04 | 0.700 | 1.000 | 2 | 2007 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 148463920 | splice donor variant | G/A | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.160 | 2 | 148468374 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2007 | 2012 | |||||
|
1 | 1.000 | 0.160 | 2 | 148469906 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 148483160 | missense variant | G/A | snv | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 2 | 2007 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 148512906 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 148470239 | frameshift variant | AACT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 148463901 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 148468966 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 148470263 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 148483222 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 148483177 | frameshift variant | ATCTGTTCTTCAAGATGGCGTCATAGTCACCACTGCAGCTGGAAACCCACTGCAGAGTCAGCTACCCATTGGGAGTGATTTT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 148490566 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 148462617 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 148463859 | frameshift variant | AAAAGCAT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 148468830 | frameshift variant | TA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 148468383 | stop gained | C/G | snv | 0.700 | 0 |