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 | 0.080 | 13 | 32340610 | frameshift variant | ATCA/- | delins | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.080 | 13 | 32354919 | frameshift variant | TT/-;TTT | delins | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
10 | 0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||
|
3 | 0.925 | 0.080 | 17 | 43092059 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 19 | 15192033 | synonymous variant | T/A;C | snv | 4.0E-06; 0.85 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
19 | 0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
9 | 0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
31 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 7 | 106867607 | missense variant | A/C;G | snv | 2.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
38 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.120 | 9 | 136495945 | 3 prime UTR variant | C/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.160 | 6 | 32223953 | 5 prime UTR variant | G/A | snv | 0.34 | 0.40 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
6 | 0.827 | 0.120 | 19 | 15192414 | synonymous variant | G/A;T | snv | 0.17 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 6 | 32220863 | missense variant | T/C | snv | 0.31 | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 17 | 39715299 | missense variant | A/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 1996 | 1996 |