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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.708 | 0.120 | 17 | 44352876 | 3 prime UTR variant | C/T | snv | 0.41 | 0.040 | 1.000 | 4 | 2008 | 2016 | ||||
|
6 | 0.827 | 0.120 | 17 | 44352404 | stop gained | C/T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2008 | ||||
|
4 | 0.851 | 0.160 | 17 | 44351586 | missense variant | G/A;C | snv | 8.4E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.160 | 17 | 44350481 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | 17 | 44349468 | missense variant | T/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
3 | 0.882 | 0.200 | 17 | 44351429 | missense variant | C/T | snv | 1.6E-05 | 1.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.120 | 17 | 44350237 | missense variant | C/A | snv | 1.1E-03 | 7.6E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.120 | 17 | 44349730 | stop gained | C/T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 17 | 44349572 | non coding transcript exon variant | G/A;C | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 17 | 44350263 | frameshift variant | CAGT/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 17 | 44350801 | splice donor variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 17 | 44351081 | stop gained | TG/-;TGTG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44351553 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 17 | 44352132 | missense variant | C/T | snv | 5.5E-03; 4.0E-06 | 5.2E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.120 | 17 | 44351436 | frameshift variant | -/TG | delins | 4.0E-06 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 17 | 44349518 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44350262 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44350501 | stop gained | -/TGTGAAGACAGGGTGCACTGCTGTC | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44350539 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44351102 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44351795 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44352373 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44352047 | stop gained | C/A;T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 44350341 | splice donor variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 44351409 | stop gained | T/C;G | snv | 0.700 | 0 |