Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 233761914 | intron variant | T/C | snv | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 233767766 | intron variant | C/T | snv | 2.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 233770738 | 3 prime UTR variant | C/T | snv | 0.19 |
|
0.800 | 1.000 | 2 | 2012 | 2013 | ||||||||||
|
2 | 233755941 | non coding transcript exon variant | CTCT/-;CT | delins | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 233770738 | 3 prime UTR variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 2 | 233760634 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
2 | 233749231 | intron variant | T/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233749337 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233755003 | splice region variant | C/G;T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233757136 | intron variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233755414 | non coding transcript exon variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
2 | 233747994 | non coding transcript exon variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233730664 | intron variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233743701 | non coding transcript exon variant | C/A;G;T | snv | 4.0E-06; 0.22; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233740656 | intron variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233744071 | intron variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233728376 | intron variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233728546 | intron variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233740214 | intron variant | A/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.120 | 2 | 233758936 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
2 | 233764593 | intron variant | G/A;T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233729061 | intron variant | T/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 233728923 | intron variant | A/G | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.851 | 0.120 | 2 | 233757013 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 |